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Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.

Molecular genetics & genomic medicine - 1 Sept 2021

Wang Jing, Lu Yu, Yan Xiaohong, Shen Tian, Li Linke, Rao Yufang, Tan Bo, Xiong Wenyu, Cheng Jing, Zhao Yu, Yuan Huijun

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a rare autosomal-dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics. MITF is one of the major pathogenic genes for type II. The aim of this study was to investigate MITF mutations and the clinical characteristics of WS type 2 (WS2) in four Chinese...

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Source

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Identifiers

PMID: 34323021
DOI: 10.1002/mgg3.1770
PMCID: PMC8457691

Genes

MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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