<?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>0121-0319</journal-id>
<journal-title><![CDATA[Medicas UIS]]></journal-title>
<abbrev-journal-title><![CDATA[Medicas UIS]]></abbrev-journal-title>
<issn>0121-0319</issn>
<publisher>
<publisher-name><![CDATA[Universidad Industrial de Santander]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0121-03192024000100111</article-id>
<article-id pub-id-type="doi">10.18273/revmed.v37n1-2024009</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Reclasificación de variante del gen TRPV4 en un paciente con displasia esquelética: reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Reclassification of TRPV4 gene variant in a patient with skeletal dysplasia: case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Posada-Bernal]]></surname>
<given-names><![CDATA[David]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moreno-Giraldo]]></surname>
<given-names><![CDATA[Lina Johanna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Libre  ]]></institution>
<addr-line><![CDATA[Cali Valle del Cauca]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Libre  ]]></institution>
<addr-line><![CDATA[Cali Valle del Cauca]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2024</year>
</pub-date>
<volume>37</volume>
<numero>1</numero>
<fpage>111</fpage>
<lpage>119</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0121-03192024000100111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0121-03192024000100111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0121-03192024000100111&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen Las displasias esqueléticas son alteraciones del crecimiento óseo y cartilaginoso con amplio espectro clínico y radiológico, cuya prevalencia es 2 a 5 casos por 10 000 recién nacidos. Se presenta el caso de un paciente masculino de 9 años con talla baja asimétrica, neurodesarrollo normal, sin deformidades osteomusculares y familiares con talla baja no estudiada. Se diagnosticó displasia esquelética, sin embargo, ante estudios paraclínicos normales, se indicó estudio molecular que reveló una nueva variante de significancia incierta en el gen TRVP4. Posteriormente, con el uso de bases de datos y de bioinformática, se reclasifica a probablemente patogénica. En valoraciones ulteriores se determinó que no cuenta con manejo dirigido y, ante la ausencia de complicaciones susceptibles de terapia, se indicó seguimiento clínico. Se resalta la importancia del reanálisis de estudios moleculares y del fortalecimiento bioinformático que facilite el diagnóstico oportuno, permitiendo la aplicación de estrategias de detección, seguimiento y tratamiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Skeletal dysplasias are alterations in bone and cartilage growth with a wide clinical and radiological spectrum, whose prevalence is 2 to 5 cases per 10 000 newborns. The case of a 9-year-old male patient with asymmetrical short stature, normal neurodevelopment, without musculoskeletal deformities and relatives with unexplored short stature is presented. Skeletal dysplasia was diagnosed; however, in the presence of normal paraclinical studies, a molecular study was indicated that revealed a new variant of uncertain significance in the TRVP4 gene. Subsequently, with the use of databases and bioinformatics, it was reclassified as likely pathogenic. In subsequent assessments, it was determined that there was no specific management and, given the absence of complications amenable to therapy, clinical follow-up was indicated. The importance of reanalysis of molecular studies and bioinformatic strengthening that facilitates timely diagnosis is highlighted, allowing the application of detection, monitoring and treatment strategies.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Canales Catiónicos TRPV]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades del Desarrollo Óseo]]></kwd>
<kwd lng="es"><![CDATA[Análisis de Secuencia de ADN]]></kwd>
<kwd lng="en"><![CDATA[TRPV Cation Channels]]></kwd>
<kwd lng="en"><![CDATA[Bone Diseases]]></kwd>
<kwd lng="en"><![CDATA[Developmental]]></kwd>
<kwd lng="en"><![CDATA[Sequence Analysis]]></kwd>
<kwd lng="en"><![CDATA[DNA]]></kwd>
</kwd-group>
</article-meta>
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