Case Report: Identification of a novel truncation mutation in PAX3 associated with Waardenburg syndrome type 1 in a Chinese family

BackgroundWaardenburg syndrome (WS) is a rare autosomal dominant disorder clinically classified into four subtypes. These subtypes exhibit clear genotype–phenotype correlations involving pathogenic variants in genes such as PAX3, MITF, EDNRB/EDN3, and SOX10. PAX3 variants are primarily linked to Typ...

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Autors principals:	Rui Zhang, Yue Hu, Qinghong Mao, Ying Xu, Can Shen, Mingjian Li, Jianghua Shen, Yongxue Yang
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2026-03-01
Col·lecció:	Frontiers in Audiology and Otology
Matèries:	Chinese family PAX3 truncation mutation Waardenburg syndrome type 1 whole-exome sequencing
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fauot.2026.1744082/full
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