CV Lattes
ORCID
Abstract
Phelan-McDermid Syndrome (PMS) is a rare genetic disease characterized by global developmental delay, Intellectual Disability (ID) and Autism Spectrum Disorder (ASD), associated with several comorbidities caused by SHANK3 loss-of-function mutations. Although SHANK3 haploinsufficiency has been described as a major cause of neurological symptoms of PMS, it cannot explain the spectrum of cli…