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Article

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Aug 2021

Niu Zhijie, Mei Lingyun, Tang Fen, Li Jiada, Wang Xueping, Sun Jie, He Chufeng, Cheng Hongsheng, Liu Yalan, Cai Xinzhang, Song Jian, Feng Yong, Jiang Lu

Abstract excerpt

PURPOSE: Waardenburg syndrome type 1 (WS1) is a rare genetic disorder characterized by dystopia canthorum, abnormal iris pigmentation, and congenital hearing loss with variable penetrance.WS1 is caused by mutations in paired box gene 3 (PAX3). The current study aimed to investigate the genetic cause of hearing loss in a four-generation Chinese WS1 family. METHODS: The phenotype of the study family was...

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Source

Identifiers

PMID: 32940795
DOI: 10.1007/s00405-020-06361-5

Genes

PAX3
MITF

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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Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.PMID 32940795Read ↗

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.Semantic proximity Read ↗

Identification Functional Analysis of A Novel Mutation of the PAX3 Gene in A Chinese Family Associated with Waardenburg Syndrome Type I Running title: Novel PAX3 Mutation in Waardenburg Syndrome Type ISemantic proximity Read ↗

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.Semantic proximity Read ↗

A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.Semantic proximity Read ↗

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Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.Semantic proximity Read ↗

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