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MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Dec 2020

Li Wu, Feng Yong, Chen Hongsheng, He Chufeng, Mei Lingyun, Liu Xue Zhong, Men Meichao

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a rare disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. Dystopia canthorum is a hallmark of WS type 1. There are two genes linked to WS type 1, including PAX3 and EDNRB. OBJECTIVE: This study aimed to investigate the...

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PMID: 32740552
DOI: 10.1097/MAO.0000000000002821

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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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MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.PMID 32740552Read ↗

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Review and update of mutations causing Waardenburg syndrome.Semantic proximity Read ↗

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Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Semantic proximity Read ↗

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