Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1910
Abstract: DeSanto‐Shinawi syndrome is a rare neurodevelopmental disorder caused by loss‐of‐function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems. read more here.
Keywords: comparison patients; desanto shinawi; shinawi syndrome; syndrome ... See more keywords