Article
Phenotypic and Brain Imaging Findings Associated With a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review.
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology - 1 Sept 2022
Bolat Hilmi, Derin Hatice, Ünsel-Bolat Gül
Abstract excerpt
Microarray-based techniques are an important testing method in etiological studies of intellectual disability and autism spectrum disorder. Interstitial deletion in the p11-p12 region of chromosome 10 is rare, having been reported in just 12 cases to date. Intellectual disability associated with the WAC gene in this region is referred to as DeSanto-Shinawi syndrome . Although all individuals with p11-p12 region...
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