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

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...

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Bibliographic Details
Main Authors: Qi Yang, Xunzhao Zhou, Sheng Yi, XiaoLing Li, Qiang Zhang, Shujie Zhang, Li Lin, Shang Yi, Biyan Chen, Zailong Qin, Jingsi Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-09-01
Series:Frontiers in Pediatrics
Subjects:
novel de novo variants
WDR26
Skraban-Deardorff syndrome
intellectual disability
developmental delay
hypotonia
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1429586/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1429586/full

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