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Article

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

PloS one - 1 Jan 2013

Yang Shuzhi, Dai Pu, Liu Xin, Kang Dongyang, Zhang Xin, Yang Weiyan, Zhou Chengyong, Yang Shiming, Yuan Huijun

Abstract excerpt

Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24194866
DOI: 10.1371/journal.pone.0077149
PMCID: PMC3806753

Genes

MITF

Variants

Provenance

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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