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

Bioscience reports - 25 Jun 2021

Li Li, Ma Jing, He Xiao-Li, Zhou Yuan-Tao, Zhang Yu, Chen Quan-Dong, Zhang Lin, Ruan Biao, Zhang Tie-Song

Abstract excerpt

Waardenburg syndrome (WS) is a congenital hereditary disease, attributed to the most common symptoms of sensorineural deafness and iris hypopigmentation. It is also known as the hearing-pigmentation deficient syndrome. Mutations on SOXl0 gene often lead to congenital deafness and has been shown to play an important role in the pathogenesis of WS. We investigated one family of five members, with four patients...

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Identifiers

PMID: 33345266
DOI: 10.1042/BSR20193375
PMCID: PMC8217986

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.PMID 33345266Read ↗

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