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Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the <i>EDNRB</i> and <i>MITF</i> Genes

1 Jan 2010

Abstract excerpt

Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type...

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PMID: 21373256
DOI: 10.1159/000322891

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Related research

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Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the <i>EDNRB</i> and <i>MITF</i> GenesPMID 21373256Read ↗

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Identification of eight novel variants across<i>PAX3, SOX10, EDNRB</i>and<i>MITF</i>genes in Waardenburg syndrome with next-generation sequencingSemantic proximity Read ↗

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Semantic proximity Read ↗

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Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Semantic proximity Read ↗

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