Case report
Open access
Jul 2026
Novel WDR26 variant in a Chinese patient with Skraban-Deardorff syndrome: a case report and literature review
By reviewing previously reported cases, it is found that dysfunction of the WDR26 gene does not necessarily accompany the occurrence of seizures, and delayed language development should be considered as the typical clinical phenotype of Skraban-Deardorff syndrome.
Cuiyun Li, Ying Xu, Guiying Zhang et al.
· Frontiers in Pediatrics · 0 citations