https://pubmed.ncbi.nlm.nih.gov/35627197/
Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability
Skraban-Deardorff syndrome is a rare autosomal dominant genetic disease caused by variants in the WDR26 gene. Here, we report two Chinese patients diagnosed...
in chinesetwonovelvariants
https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1429586/full
Frontiers | Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two...
Mutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrom...
loss of function