A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1

IntroductionWaardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by congenital sensorineural hearing loss and facial dysmorphisms. PAX3 mutations are a known genetic cause. This study investigated a novel PAX3 mutation in a Chinese Yugur family and assessed long-term...

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Bibliografische Detailangaben

Hauptverfasser:	Lupeng Zhan, Baicheng Xu, Dujuan Lin, Ya Wang, Panpan Bian
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2025-10-01
Schriftenreihe:	Frontiers in Genetics
Schlagworte:	PAX3 Waardenburg syndrome whole-exome sequencing de novo mutation hearing loss
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1679351/full
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