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Article

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

Scientific reports - 27 Jan 2017

Wang Xiong, Zhu Yaowu, Shen Na, Peng Jing, Wang Chunyu, Liu Haiyi, Lu Yanjun

Abstract excerpt

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study...

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Source

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Identifiers

PMID: 28128317
DOI: 10.1038/srep41513
PMCID: PMC5269737

Genes

SOX10
SRY

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.PMID 28128317Read ↗

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