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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...

Topics

China
Female
Humans
Mutation
PAX3 Transcription Factor
Pedigree
Waardenburg Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

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