<?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>0120-8705</journal-id>
<journal-title><![CDATA[CES Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[CES Med.]]></abbrev-journal-title>
<issn>0120-8705</issn>
<publisher>
<publisher-name><![CDATA[Universidad CES]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87052022000300115</article-id>
<article-id pub-id-type="doi">10.21615/cesmedicina.6805</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Cohen: reporte de caso y revisión de la literatura]]></article-title>
<article-title xml:lang="en"><![CDATA[Cohen syndrome: case report and literature review]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Gómez]]></surname>
<given-names><![CDATA[Andrea Milena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Laguado-Vera]]></surname>
<given-names><![CDATA[Diana Josefina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mora-Bautista]]></surname>
<given-names><![CDATA[Víctor Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Contreras-García]]></surname>
<given-names><![CDATA[Gustavo Adolfo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Industrial de Santander  ]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Industrial de Santander  ]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Industrial de Santander  ]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Industrial de Santander  ]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2022</year>
</pub-date>
<volume>36</volume>
<numero>3</numero>
<fpage>115</fpage>
<lpage>124</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87052022000300115&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87052022000300115&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87052022000300115&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  el Síndrome de Cohen es una enfermedad genética monogénica autosómica recesiva, que se origina a partir de mutaciones en el gen VPS13B (COH1). Se caracteriza por obesidad, retraso psicomotor, microcefalia, hipotonía, miopía progresiva, distrofia retiniana, neutropenia intermitente y rasgos faciales particulares.  Objetivo:  presentar el segundo caso reportado en Colombia, que fue confirmado mediante estudio molecular. También se presenta una breve revisión de la literatura médica más reciente sobre esta patología.  Caso clínico:  adolescente de 14 años con microcefalia, trastorno cognitivo, malformaciones menores asociadas, neutropenia y obesidad, con mutación homocigota del gen VPS13B.  Conclusión:  a pesar de ser un síndrome poco común, con importante variabilidad fenotípica, debe sospecharse con base en los criterios clínicos y en las patologías asociadas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  cohen's syndrome is an autosomal recessive monogenic genetic disease, which originates from mutations in the VPS13B (COH1) gene. It is characterized by obesity, psychomotor retardation, microcephaly, hypotonia, progressive myopia, retinal dystrophy, intermittent neutropenia, and classic facial features.  Objective:  to present the second case reported in Colombia, which was confirmed by molecular study. A brief review of the most recent medical literature on this pathology is also presented.  Clinical case:  a 14-year-old adolescent with microcephaly, cognitive disorder, minor associated malformations, neutropenia, and obesity, with a homozygous VPS13B gene mutation.  Conclusion:  despite being a rare syndrome, with significant phenotypic variability, it should be suspected based on clinical criteria and associated pathologies.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Cohen]]></kwd>
<kwd lng="es"><![CDATA[proteína VSPB13B (COH1)]]></kwd>
<kwd lng="es"><![CDATA[microcefalia]]></kwd>
<kwd lng="es"><![CDATA[fenotipo]]></kwd>
<kwd lng="es"><![CDATA[análisis molecular]]></kwd>
<kwd lng="es"><![CDATA[gen.]]></kwd>
<kwd lng="en"><![CDATA[Cohen syndrome]]></kwd>
<kwd lng="en"><![CDATA[VPS13B protein - human]]></kwd>
<kwd lng="en"><![CDATA[microcephaly]]></kwd>
<kwd lng="en"><![CDATA[phenotype]]></kwd>
<kwd lng="en"><![CDATA[molecular analysis]]></kwd>
<kwd lng="en"><![CDATA[gene.]]></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[Kolehmainen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Wilkinson]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Lehesjoki]]></surname>
<given-names><![CDATA[A-E]]></given-names>
</name>
<name>
<surname><![CDATA[Chandler]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Kivitie-Kallio]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Clayton-Smith]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Delineation of Cohen syndrome following a large-scale genotype-phenotype screen]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2004</year>
<volume>75</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>122-7</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[Budisteanu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Barca]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Chirieac]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Magureanu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cohen syndrome - a rare genetic cause of hypotonia in children]]></article-title>
<source><![CDATA[Mædica]]></source>
<year>2010</year>
<volume>5</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>56-61</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[Saldarriaga-Gil]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Collazos-Saa]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Ramírez-Cheyne]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Cohen diagnosticado con hibridación genómica comparativa por microarreglos]]></article-title>
<source><![CDATA[Iatreia]]></source>
<year>2017</year>
<volume>30</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>455-62</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chandler]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Kidd]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Gazali]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Kolehmainen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Lehesjoki]]></surname>
<given-names><![CDATA[AE]]></given-names>
</name>
<name>
<surname><![CDATA[Black]]></surname>
<given-names><![CDATA[GCM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>2003</year>
<volume>40</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>233-41</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rafiq]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Leblond]]></surname>
<given-names><![CDATA[CS]]></given-names>
</name>
<name>
<surname><![CDATA[Nadeem Saqib]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Vincent]]></surname>
<given-names><![CDATA[AK]]></given-names>
</name>
<name>
<surname><![CDATA[Ambalavanan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Khan]]></surname>
<given-names><![CDATA[FS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features]]></article-title>
<source><![CDATA[BMC Med Genet]]></source>
<year>2015</year>
<volume>16</volume>
<numero>41</numero>
<issue>41</issue>
</nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[El Chehadeh-Djebbar]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Blair]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Holder-Espinasse]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Moncla]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Frances]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Rio]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Changing facial phenotype in Cohen syndrome: Towards clues for an earlier diagnosis]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2013</year>
<volume>21</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>736-42</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[Douzgou]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Petersen]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical variability of genetic isolates of Cohen syndrome]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>2011</year>
<volume>79</volume>
<numero>6</numero>
<issue>6</issue>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Taban]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Memoracion-Peralta]]></surname>
<given-names><![CDATA[DSA]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Gazali]]></surname>
<given-names><![CDATA[LI]]></given-names>
</name>
<name>
<surname><![CDATA[Traboulsi]]></surname>
<given-names><![CDATA[EI]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cohen syndrome: Report of nine cases and review of the literature, with emphasis on ophthalmic features]]></article-title>
<source><![CDATA[J AAPOS]]></source>
<year>2007</year>
<volume>11</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>431-7</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[Santana Hernández]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Tamayo Chang]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Cohen. Presentación de un caso]]></article-title>
<source><![CDATA[MediSur]]></source>
<year>2014</year>
<volume>12</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>437-41</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[Athanasakis]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Fabretto]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Faletra]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Mocenigo]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Morgan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Gasparini]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Two novel COH1 mutations in an Italian patient with Cohen syndrome]]></article-title>
<source><![CDATA[Mol Syndromol]]></source>
<year>2012</year>
<volume>3</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>30-3</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[Kolehmainen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Black]]></surname>
<given-names><![CDATA[GCM]]></given-names>
</name>
<name>
<surname><![CDATA[Saarinen]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Chandler]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Clayton-Smith]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Träskelin]]></surname>
<given-names><![CDATA[A-L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2003</year>
<volume>72</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1359-69</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[Bugiani]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gyftodimou]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Tsimpouka]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Lamantea]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Katzaki]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[d&#8217;Adamo]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2008</year>
<volume>146A</volume>
<numero>17</numero>
<issue>17</issue>
<page-range>2221-6</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stenson]]></surname>
<given-names><![CDATA[PD]]></given-names>
</name>
<name>
<surname><![CDATA[Mort]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Ball E]]></surname>
<given-names><![CDATA[V.]]></given-names>
</name>
<name>
<surname><![CDATA[Evans]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Hayden]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Heywood]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies]]></article-title>
<source><![CDATA[Hum Genet]]></source>
<year>2017</year>
<volume>136</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>665-77</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Madrigal]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Alvarez-Mora]]></surname>
<given-names><![CDATA[MI]]></given-names>
</name>
<name>
<surname><![CDATA[Karlberg]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Rodríguez-Revenga]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Elurbe]]></surname>
<given-names><![CDATA[DM]]></given-names>
</name>
<name>
<surname><![CDATA[Rabionet]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes]]></article-title>
<source><![CDATA[J Clin Pathol]]></source>
<year>2014</year>
<volume>67</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1099-103</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kivitie-Kallio]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Norio]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cohen syndrome: essential features, natural history, and heterogeneity]]></article-title>
<source><![CDATA[Am J Med Genet]]></source>
<year>2001</year>
<volume>102</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>125-35</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kivitie-Kallio]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Summanen]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Raitta]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Norio]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ophthalmologic findings in Cohen syndrome: A long-term follow-up]]></article-title>
<source><![CDATA[Ophthalmology]]></source>
<year>2000</year>
<volume>107</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>1737-45</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Douzgou]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Samples]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Georgoudi]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Petersen]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ophthalmic findings in the Greek isolate of Cohen syndrome]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2011</year>
<volume>155A</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>534-9</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[Chandler]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Biswas]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Lloyd]]></surname>
<given-names><![CDATA[IC]]></given-names>
</name>
<name>
<surname><![CDATA[Parry]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Clayton-Smith]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Black]]></surname>
<given-names><![CDATA[GCM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The ophthalmic findings in Cohen syndrome]]></article-title>
<source><![CDATA[Br J Ophthalmol]]></source>
<year>2002</year>
<volume>86</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1395-8</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[Cokkinos]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Gkouziouta]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Karavolias]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Kariofillis]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Voudris]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Idiopathic pulmonary arterial hypertension in a young patient with the cohen syndrome]]></article-title>
<source><![CDATA[Hell J Cardiol]]></source>
<year>2013</year>
<volume>54</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>143-6</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[Kivitie-Kallio]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Larsen]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kajasto]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Norio]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years]]></article-title>
<source><![CDATA[Neuropediatrics]]></source>
<year>1999</year>
<volume>30</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>181-9</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
