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Article

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.

BMC medical genomics - 26 Jun 2023

Wang Yanan, Chai Yuqiong, Zhang Pai, Zang Weiwei

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris. 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 was to identify the pathogenic variant in a Chinese family with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37365589
DOI: 10.1186/s12920-023-01572-1
PMCID: PMC10294417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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