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Direct linkDemily, Caroline; Lesca, Gaétan; Poisson, Alice; Till, Marianne; Barcia, Giulia; Chatron, Nicolas; Sanlaville, Damien; Munnich, Arnold – Journal of Autism and Developmental Disorders, 2018
The "22q11.2 duplication" is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic "HUWE1" and "KIF1A" mutations in two severely affected ASD/ID participants carrying a 22q11.2…
Descriptors: Autism, Pervasive Developmental Disorders, Genetics, Epilepsy
