Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients

IntroductionMutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), developmental delay (DD), hypotonia, epilepsy, infant fee...

Description complète

Détails bibliographiques

Auteurs principaux:	Qi Yang, Xunzhao Zhou, Sheng Yi, XiaoLing Li, Qiang Zhang, Shujie Zhang, Li Lin, Shang Yi, Biyan Chen, Zailong Qin, Jingsi Luo
Format:	Artigo
Langue:	Inglês
Publié:	Frontiers Media S.A. 2024-09-01
Collection:	Frontiers in Pediatrics
Sujets:	novel de novo variants WDR26 Skraban-Deardorff syndrome intellectual disability developmental delay hypotonia
Accès en ligne:	https://www.frontiersin.org/articles/10.3389/fped.2024.1429586/full
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!