<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0120-4157</journal-id>
<journal-title><![CDATA[Biomédica]]></journal-title>
<abbrev-journal-title><![CDATA[Biomédica]]></abbrev-journal-title>
<issn>0120-4157</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-41572018000300308</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.v38i4.4199</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Variante patogénica homocigótica del gen BBS10 en un paciente con síndrome de Bardet-Biedl]]></article-title>
<article-title xml:lang="en"><![CDATA[A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ladino]]></surname>
<given-names><![CDATA[Yaqueline]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galvis]]></surname>
<given-names><![CDATA[Johanna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Yasnó]]></surname>
<given-names><![CDATA[Diana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez]]></surname>
<given-names><![CDATA[Adriana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Beltrán]]></surname>
<given-names><![CDATA[Orietta Ivonne]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Fundación Hospital Pediátrico La Misericordia Grupo de Investigación GenHOMI Departamento de Genética]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional de Colombia Maestría en Genética Humana ]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Militar Nueva Granada Facultad de Medicina Grupo de Investigación BioGenEtica &amp; BioDerecho]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2018</year>
</pub-date>
<volume>38</volume>
<numero>3</numero>
<fpage>308</fpage>
<lpage>319</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572018000300308&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572018000300308&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572018000300308&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El síndrome de Bardet-Biedl es una enfermedad hereditaria, autosómica recesiva, con gran heterogeneidad de locus, que pertenece a las denominadas ciliopatías, denominadas así por la deficiencia funcional presente y porque las proteínas afectadas se localizan en el cilio primario. El síndrome afecta múltiples sistemas, con compromiso visual, renal, cognitivo, esquelético y gonadal, y obesidad. Este síndrome presenta una gran variabilidad intrafamiliar e interfamiliar. Se presenta el caso clínico de un paciente adolescente con diagnóstico de síndrome de Bardet-Biedl, así como su manejo, los resultados de la secuenciación de 22 genes y el análisis actualizado de la literatura médica. Se recopiló la información clínica y, previo consentimiento informado, se hizo la prueba de panel de secuenciación multigénica de los genes implicados. El paciente es hijo de la unión de personas consanguíneas. Fue el primer afectado en la familia y presentaba polidactilia posaxial, obesidad, micropene, retinitis pigmentaria y dificultades de aprendizaje. En el panel multigénico, se identificó la variante patogénica homocigótica c.39_46del en el gen BBS10 y otras variantes de genes BBS asociadas con la obesidad. Dado que el síndrome de Bardet-Biedl es una enfermedad huérfana rara, interpretar el pleiotropismo y la heterogeneidad de locus y de alelos, constituye un reto. La confirmación molecular permite el manejo adecuado de los pacientes, así como el seguimiento y el asesoramiento genético apropiados.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature. We collected the clinical data of the patient and, after obtaining the informed consent, we conducted a multigenic sequencing panel oriented to known implicated genes. The patient was born to consanguineous parents and was the first affected member of the family. He presented with postaxial polydactyly, obesity, micropenis, retinitis pigmentosa, and learning disability. The multigenic panel allowed the identification of the homozygous pathogenic variant c.39_46del in the BBS10 gene and in other BBS genes variants associated with obesity. As the Bardet-Biedl syndrome is a rare disease, it is challenging to interpret its pleiotropism and gene/allelic heterogeneity. Its confirmation by molecular tests allows an adequate approach, follow-up, and genetic counseling of the patient and the family.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de Bardet-Biedl]]></kwd>
<kwd lng="es"><![CDATA[polidactilia]]></kwd>
<kwd lng="es"><![CDATA[obesidad]]></kwd>
<kwd lng="es"><![CDATA[retinitis pigmentosa]]></kwd>
<kwd lng="es"><![CDATA[discapacidad intelectual]]></kwd>
<kwd lng="es"><![CDATA[cilios]]></kwd>
<kwd lng="en"><![CDATA[Bardet-Biedl syndrome]]></kwd>
<kwd lng="en"><![CDATA[polydactyly]]></kwd>
<kwd lng="en"><![CDATA[obesity]]></kwd>
<kwd lng="en"><![CDATA[retinitis pigmentosa]]></kwd>
<kwd lng="en"><![CDATA[intellectual disability]]></kwd>
<kwd lng="en"><![CDATA[cilia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Laurence]]></surname>
<given-names><![CDATA[JZ]]></given-names>
</name>
<name>
<surname><![CDATA[Moon]]></surname>
<given-names><![CDATA[RC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Four cases of &#8220;retinitis pigmentosa&#8221; occurring in the same family, and accompanied by general imperfections of development]]></article-title>
<source><![CDATA[Obes Res]]></source>
<year>1995</year>
<volume>3</volume>
<page-range>400-3</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wilhelm]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Pacheco]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Laurence-Moon- Biedl]]></article-title>
<source><![CDATA[Rev Chil Pediatr]]></source>
<year>1979</year>
<volume>50</volume>
<page-range>77-80</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Forsythe]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Beales]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bardet-Biedl syndrome]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2013</year>
<volume>21</volume>
<page-range>8-13</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Forsythe]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Beales]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
</person-group>
<source><![CDATA[Bardet-Biedl syndrome. Gene Reviews®]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Beales]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
<name>
<surname><![CDATA[Elcioglu]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Woolf]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Parker]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Flinter]]></surname>
<given-names><![CDATA[FA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>1999</year>
<volume>36</volume>
<page-range>437-46</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Daniels]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
<name>
<surname><![CDATA[Sandberg]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Weigel-DiFranco]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Hejtmancik]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Berson]]></surname>
<given-names><![CDATA[EL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genotype-phenotype correlations in Bardet-Biedl syndrome]]></article-title>
<source><![CDATA[Arch Ophthalmol]]></source>
<year>2012</year>
<volume>130</volume>
<page-range>901-7</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Green]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Parfrey]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Harnett]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Farid]]></surname>
<given-names><![CDATA[NR]]></given-names>
</name>
<name>
<surname><![CDATA[Cramer]]></surname>
<given-names><![CDATA[BC]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>1989</year>
<volume>321</volume>
<page-range>1002-9</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tobin]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Beales]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bardet-Biedl syndrome: beyond the cilium]]></article-title>
<source><![CDATA[Pediatr Nephrol]]></source>
<year>2007</year>
<volume>22</volume>
<page-range>926-36</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pawlik]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Mir]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Iqbal]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Nürnberg]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Becker]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel familial BBS12 mutation associated with a mild phenotype: implications for clinical and molecular diagnostic strategies]]></article-title>
<source><![CDATA[Mol Syndromol]]></source>
<year>2010</year>
<volume>1</volume>
<page-range>27-34</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hostelley]]></surname>
<given-names><![CDATA[TL]]></given-names>
</name>
<name>
<surname><![CDATA[Lodh]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Zaghloul]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl syndrome and Alström syndrome provides mechanistic insight into shared and divergent phenotypes]]></article-title>
<source><![CDATA[BMC Genomics]]></source>
<year>2016</year>
<volume>17</volume>
<page-range>318</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Heon]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Qin]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Garrison]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
<name>
<surname><![CDATA[Tavares]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Vincent]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)]]></article-title>
<source><![CDATA[Human Mol Genet]]></source>
<year>2016</year>
<volume>25</volume>
<page-range>2283-94</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lindstrand]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Frangakis]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Carvalho]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
<name>
<surname><![CDATA[Richardson]]></surname>
<given-names><![CDATA[EB]]></given-names>
</name>
<name>
<surname><![CDATA[McFadden]]></surname>
<given-names><![CDATA[KA]]></given-names>
</name>
<name>
<surname><![CDATA[Willer]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2016</year>
<volume>99</volume>
<page-range>318-36</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="">
<collab>Ministerio de Salud</collab>
<source><![CDATA[Resolución 8430 de 1993. Por la cual se establecen las normas científicas, técnicas y administrativas para la investigación en salud]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="">
<collab>Ministerio de la Protección Social</collab>
<source><![CDATA[Resolución 2378 de 2008. Por la que se adoptan las buenas prácticas clínicas para las instituciones que conducen investigación con medicamentos en seres humanos]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="">
<collab>World Medical Association</collab>
<source><![CDATA[Declaración de Helsinki - Principios éticos para las investigaciones médicas en seres humanos. 64a Asamblea General]]></source>
<year>2013</year>
</nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hakonarson]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ANNOVAR: Functional annotation of genetic variants from next-generation sequencing data]]></article-title>
<source><![CDATA[Nucleic Acids Research]]></source>
<year>2010</year>
<volume>38</volume>
</nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Richards]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Aziz]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Bale]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bick]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Das]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Gastier-Foster]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2015</year>
<volume>17</volume>
<page-range>405-24</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Schwarz]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Cooper]]></surname>
<given-names><![CDATA[DN]]></given-names>
</name>
<name>
<surname><![CDATA[Schuelke]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Seelow]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutation Taster2: mutation prediction for the deep-sequencing age]]></article-title>
<source><![CDATA[Nat Mehtods]]></source>
<year>2014</year>
<volume>11</volume>
<page-range>361-2</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[McLaren]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Gil]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Hunt]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
<name>
<surname><![CDATA[Riat]]></surname>
<given-names><![CDATA[HS]]></given-names>
</name>
<name>
<surname><![CDATA[Ritchie]]></surname>
<given-names><![CDATA[GR]]></given-names>
</name>
<name>
<surname><![CDATA[Thormann]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The Ensemble Variant Effect Predictor]]></article-title>
<source><![CDATA[Genome Biol]]></source>
<year>2016</year>
<volume>17</volume>
<page-range>122</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[InterVar: Clinical Interpretation of Genetic Variants vy the 2015 ACMG-AMP Guidelines]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2017</year>
<volume>100</volume>
<page-range>267-80</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Slavotinek]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
</person-group>
<source><![CDATA[McKusick-Kaufman Syndrome. Gene Reviews®]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Marshall]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Maffei]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Beck]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Barrett]]></surname>
<given-names><![CDATA[TG]]></given-names>
</name>
<name>
<surname><![CDATA[Paisey]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Naggert]]></surname>
<given-names><![CDATA[JK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical utility gene card for: Alström Syndrome - update 2013]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2013</year>
<volume>21</volume>
</nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Marshall]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Paisey]]></surname>
<given-names><![CDATA[RB]]></given-names>
</name>
<name>
<surname><![CDATA[Carey]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Macdermott]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<source><![CDATA[Alström syndrome. GeneReviews®]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Parisi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Glass]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<source><![CDATA[Joubert Syndrome and Related Disorders. GeneReviews®]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B25">
<label>25</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Farag]]></surname>
<given-names><![CDATA[TI]]></given-names>
</name>
<name>
<surname><![CDATA[Teebi]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[High incidence of Bardet Biedl syndrome among the Bedouin]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>1989</year>
<volume>36</volume>
<page-range>463-4</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hjortshøj]]></surname>
<given-names><![CDATA[TD]]></given-names>
</name>
<name>
<surname><![CDATA[Grønskov]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Brøndum-Nielsen]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Rosenberg]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands]]></article-title>
<source><![CDATA[Br J Ophthalmol]]></source>
<year>2009</year>
<volume>93</volume>
<page-range>409-13</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Nachury]]></surname>
<given-names><![CDATA[MV]]></given-names>
</name>
<name>
<surname><![CDATA[Loktev]]></surname>
<given-names><![CDATA[AV]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Westlake]]></surname>
<given-names><![CDATA[CJ]]></given-names>
</name>
<name>
<surname><![CDATA[Peränen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Merdes]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis]]></article-title>
<source><![CDATA[Cell]]></source>
<year>2007</year>
<volume>129</volume>
<page-range>1201-13</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Loktev]]></surname>
<given-names><![CDATA[AV]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Beck]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Searby]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Scheetz]]></surname>
<given-names><![CDATA[TE]]></given-names>
</name>
<name>
<surname><![CDATA[Bazan]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A BBSome subunit links ciliogenesis, microtubule stability, and acetylation]]></article-title>
<source><![CDATA[Dev Cell]]></source>
<year>2008</year>
<volume>15</volume>
<page-range>854-65</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>29</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Seo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Baye]]></surname>
<given-names><![CDATA[LM]]></given-names>
</name>
<name>
<surname><![CDATA[Schulz]]></surname>
<given-names><![CDATA[NP]]></given-names>
</name>
<name>
<surname><![CDATA[Beck]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Slusarski]]></surname>
<given-names><![CDATA[DC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly]]></article-title>
<source><![CDATA[Proc Natl Acad Sci USA]]></source>
<year>2010</year>
<volume>107</volume>
<page-range>1488-93</page-range></nlm-citation>
</ref>
<ref id="B30">
<label>30</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cardenas-Rodriguez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Badano]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ciliary biology: understanding the cellular and genetic basis of human ciliopathies]]></article-title>
<source><![CDATA[Am J Med Genet C Semin Med Genet]]></source>
<year>2009</year>
<volume>151C</volume>
<page-range>263-80</page-range></nlm-citation>
</ref>
<ref id="B31">
<label>31</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Young]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Agashe]]></surname>
<given-names><![CDATA[VR]]></given-names>
</name>
<name>
<surname><![CDATA[Siegers]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Hartl]]></surname>
<given-names><![CDATA[FU]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pathways of chaperone-mediated protein folding in the cytosol]]></article-title>
<source><![CDATA[Nat Rev Mol Cel Biol]]></source>
<year>2004</year>
<volume>5</volume>
<page-range>781-91</page-range></nlm-citation>
</ref>
<ref id="B32">
<label>32</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Álvarez-Satta]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Castro-Sánchez]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Valverde]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bardet- Biedl syndrome as a chaperonopathy: dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12)]]></article-title>
<source><![CDATA[Front Mol Biosci]]></source>
<year>2017</year>
<volume>4</volume>
<page-range>55</page-range></nlm-citation>
</ref>
<ref id="B33">
<label>33</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Marion]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Stutzmann]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Gérard]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[De Melo]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Schaefer]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Claussmann]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>2012</year>
<volume>49</volume>
<page-range>317-21</page-range></nlm-citation>
</ref>
<ref id="B34">
<label>34</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lindstrand]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Davis]]></surname>
<given-names><![CDATA[EE]]></given-names>
</name>
<name>
<surname><![CDATA[Carvalho]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
<name>
<surname><![CDATA[Pehlivan]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Willer]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Tsai]]></surname>
<given-names><![CDATA[IC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2014</year>
<volume>94</volume>
<page-range>745-54</page-range></nlm-citation>
</ref>
<ref id="B35">
<label>35</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Priya]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Nampoothiri]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sen]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Sripriya]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management]]></article-title>
<source><![CDATA[Indian J Ophthalmol]]></source>
<year>2016</year>
<volume>64</volume>
<page-range>620-7</page-range></nlm-citation>
</ref>
<ref id="B36">
<label>36</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[ET]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[YP]]></given-names>
</name>
<name>
<surname><![CDATA[Chan]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Tiinamaija]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Käräjämäki]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Madsen]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2014</year>
<volume>95</volume>
<page-range>509-20</page-range></nlm-citation>
</ref>
<ref id="B37">
<label>37</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stoetzel]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Muller]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Laurier]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Davis]]></surname>
<given-names><![CDATA[EE]]></given-names>
</name>
<name>
<surname><![CDATA[Zaghloul]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
<name>
<surname><![CDATA[Vicaire]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2007</year>
<volume>80</volume>
<page-range>1-11</page-range></nlm-citation>
</ref>
<ref id="B38">
<label>38</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Yu]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Seo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Stone]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
<name>
<surname><![CDATA[Sheffield]]></surname>
<given-names><![CDATA[VC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Intrinsic protein-protein interaction-mediated and chaperoninassisted sequential assembly of stable Bardet-Biedl syndrome protein complex, the BBSome]]></article-title>
<source><![CDATA[J Biol Chem]]></source>
<year>2012</year>
<volume>287</volume>
<page-range>20625-35</page-range></nlm-citation>
</ref>
<ref id="B39">
<label>39</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cognard]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Scerbo]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Obringer]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Yu]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Cosata]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Haser]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice]]></article-title>
<source><![CDATA[Cilia]]></source>
<year>2015</year>
<volume>4</volume>
<page-range>10</page-range></nlm-citation>
</ref>
<ref id="B40">
<label>40</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stoezel]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Laurier]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Davis]]></surname>
<given-names><![CDATA[EE]]></given-names>
</name>
<name>
<surname><![CDATA[Muller]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Rix]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Badano]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[BBS10 encodes a vertebrate-specific chaperoninlike protein and is a major BBS locus]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2006</year>
<volume>38</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>521-4</page-range></nlm-citation>
</ref>
<ref id="B41">
<label>41</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Leroux]]></surname>
<given-names><![CDATA[MR]]></given-names>
</name>
<name>
<surname><![CDATA[Hartl]]></surname>
<given-names><![CDATA[FU]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Protein folding: versatility of the cytosolic chaperonin TRiC/CCT]]></article-title>
<source><![CDATA[Curr Biol]]></source>
<year>2000</year>
<volume>10</volume>
<page-range>R260-4</page-range></nlm-citation>
</ref>
<ref id="B42">
<label>42</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cuellar]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
</person-group>
<source><![CDATA[Caracterización estructural y funcional de la interacción entre las chaperonas CCT y Hsc70]]></source>
<year>2008</year>
<page-range>7-8</page-range><publisher-loc><![CDATA[Madrid ]]></publisher-loc>
<publisher-name><![CDATA[Universidad Autónoma de Madrid]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B43">
<label>43</label><nlm-citation citation-type="">
<collab>Leiden Open Variation Database</collab>
<source><![CDATA[Gene BBS10]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B44">
<label>44</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Adzhubei]]></surname>
<given-names><![CDATA[IA]]></given-names>
</name>
<name>
<surname><![CDATA[Schmidt]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Peshkin]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Ramensky]]></surname>
<given-names><![CDATA[VE]]></given-names>
</name>
<name>
<surname><![CDATA[Gerasimova]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bork]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A method and server for predicting damaging missense mutations]]></article-title>
<source><![CDATA[Nat Methods]]></source>
<year>2010</year>
<volume>7</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>248-9</page-range></nlm-citation>
</ref>
<ref id="B45">
<label>45</label><nlm-citation citation-type="">
<collab>NHLBI GO Exome Sequencing Project (ESP)</collab>
<source><![CDATA[Exome Variant Server]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B46">
<label>46</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rouskas]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Paletas]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Kalogeridis]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Sarigianni]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Ioannidou-Papagiannaki]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Tsapas]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population]]></article-title>
<source><![CDATA[Int J Obes]]></source>
<year>2008</year>
<volume>32</volume>
<page-range>1618-25</page-range></nlm-citation>
</ref>
<ref id="B47">
<label>47</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ajmal]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Imran]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Neveling]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Tayyab]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Jaffar]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sadeque]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Bield syndrome]]></article-title>
<source><![CDATA[Mol Vis]]></source>
<year>2013</year>
<volume>19</volume>
<page-range>644-53</page-range></nlm-citation>
</ref>
<ref id="B48">
<label>48</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shim]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JH]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[CY]]></given-names>
</name>
<name>
<surname><![CDATA[Hwang]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>2016</year>
<volume>44</volume>
<page-range>9611-23</page-range></nlm-citation>
</ref>
<ref id="B49">
<label>49</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Oud]]></surname>
<given-names><![CDATA[MM]]></given-names>
</name>
<name>
<surname><![CDATA[Lamers]]></surname>
<given-names><![CDATA[IJ]]></given-names>
</name>
<name>
<surname><![CDATA[Arts]]></surname>
<given-names><![CDATA[HH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ciliopathies: genetics in pediatric medicine]]></article-title>
<source><![CDATA[J Pediatr Genet]]></source>
<year>2017</year>
<volume>6</volume>
<page-range>18-29</page-range></nlm-citation>
</ref>
<ref id="B50">
<label>50</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sengillo]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Justus]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Tsai]]></surname>
<given-names><![CDATA[YT]]></given-names>
</name>
<name>
<surname><![CDATA[Cabral]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Tsang]]></surname>
<given-names><![CDATA[SH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Gene and cell-based therapies for inherited retinal disorders: An update]]></article-title>
<source><![CDATA[Am J Med Genet C Semin Med Genet]]></source>
<year>2016</year>
<volume>172</volume>
<page-range>349-66</page-range></nlm-citation>
</ref>
<ref id="B51">
<label>51</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sengillo]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Justus]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Cabral]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Tsang]]></surname>
<given-names><![CDATA[SH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Correction of monogenic and common retinal disorders with gene therapy]]></article-title>
<source><![CDATA[Genes]]></source>
<year>2017</year>
<volume>8</volume>
<page-range>53</page-range></nlm-citation>
</ref>
<ref id="B52">
<label>52</label><nlm-citation citation-type="">
<collab>Congreso de Colombia</collab>
<source><![CDATA[Ley 1392 de 2010. Por medio de la cual se reconocen las enfermedades huérfanas como de especial interés y se adoptan normas tendientes a garantizar la protección social por parte del Estado colombiano a la población que padece enfermedades huérfanas y sus cuidadores]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B53">
<label>53</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[De Castro]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Restrepo]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetics and genomic medicine in Colombia]]></article-title>
<source><![CDATA[Mol Genet Genomic Med]]></source>
<year>2015</year>
<volume>3</volume>
<page-range>84-91</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
