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Article

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.

International journal of pediatric otorhinolaryngology - 1 Aug 2021

Guo Min, Li Qing, Jiang Chaowu, Li Shuling, Ruan Biao

Abstract excerpt

OBJECTIVES: To determine the clinical characteristics and genetic causes of Waardenburg syndrome type 1 (WS1) present in a Chinese Han family. METHODS: Evaluations, including the familial history, clinical features and audiological tests, were performed on the proband and her parents. Genetic analyses were conducted using targeted next-generation sequencing of 144 known deafness genes, and confirmed by Sanger...

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PMID: 34038854
DOI: 10.1016/j.ijporl.2021.110758

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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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