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Article

Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.

International journal of pediatric otorhinolaryngology - 1 Jan 2021

Varga Lukas, Danis Daniel, Drsata Jakub, Masindova Ivica, Skopkova Martina, Slobodova Zuzana, Chrobok Viktor, Profant Milan, Gasperikova Daniela

Abstract excerpt

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous group of inherited disorders manifesting with sensorineural hearing loss and pigmentary anomalies. Here we present two Caucasian families with novel variants in EDNRB and SOX10 representing both sides of phenotype spectrum in WS. The c.521G>A variant in EDNRB identified in Family 1 leads to disruption of the cysteine disulfide bridge between...

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Identifiers

PMID: 33234331
DOI: 10.1016/j.ijporl.2020.110499

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Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.PMID 33234331Read ↗

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