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Article

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.

Neural plasticity - 1 Jan 2020

Chen Sen, Jin Yuan, Xie Le, Xie Wen, Xu Kai, Qiu Yue, Bai Xue, Zhang Hui-Min, Liu Xiao-Zhou, Wang Xiao-Hui, Kong Wei-Jia, Sun Yu

Abstract excerpt

Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss. It is responsible for 2-5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 can cause corresponding types of WS. Among them, SOX10 mutation is responsible for approximately...

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Identifiers

PMID: 32908492
DOI: 10.1155/2020/9260807
PMCID: PMC7474791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.PMID 32908492Read ↗

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A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.Semantic proximity Read ↗

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Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.Semantic proximity Read ↗

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