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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Lupeng Zhan, Baicheng Xu, Dujuan Lin, Ya Wang, Panpan Bian
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Frontiers Media S.A. 2025-10-01
Σειρά:	Frontiers in Genetics
Θέματα:	PAX3 Waardenburg syndrome whole-exome sequencing de novo mutation hearing loss
Διαθέσιμο Online:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1679351/full
Ετικέτες:	Προσθήκη ετικέτας Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!