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

• Main Authors: Qi Yang (Author), Xunzhao Zhou (Author), Sheng Yi (Author), XiaoLing Li (Author), Qiang Zhang (Author), Shujie Zhang (Author), Li Lin (Author), Shang Yi (Author), Biyan Chen (Author), Zailong Qin (Author), Jingsi Luo (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...