Article

A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IV

2023-03-09

Abstract excerpt

<h4>Background: </h4> Waardenburg syndrome (WS) is a genetic disorder that affects skin, hair, and iris pigmentation, and causes sensorineural deafness. The syndrome is classified into four types (WS1, WS2, WS3, and WS4), each with different clinical phenotypes and underlying genetic causes. The aim of this study is to identify the pathogenic mutation in a Chinese family with Waardenburg syndrome type IV. Methods...

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Literature Corpus work: bbd3fc34-632b-5b11-94fb-cc783b859e30
DOI: 10.21203/rs.3.rs-2637581/v1

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