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Mieses, A. M.; Tavassoli, T.; Li, E.; Soorya, L.; Lurie, S.; Wang, A. T.; Siper, P. M.; Kolevzon, A. – Journal of Autism and Developmental Disorders, 2016
Phelan-McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the "SHANK3" gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of…
Descriptors: Autism, Pervasive Developmental Disorders, Intellectual Disability, Genetic Disorders