Asif, MMartiniano, Hugo F.Rasga, CeliaMarques, Ana R.Santos, Joao X.O., GuiomarCouto, Francisco M.Vicente, Astrid M.2017-12-122017-12-122017-10http://hdl.handle.net/10400.18/4852Introduction: Autism Spectrum Disorder (ASD) is characterized by deficits in social interaction and communication, and by the presence of repetitive behavior and/or restricted interests. ASD manifests with heterogeneous phenotype and has an estimated global prevalence of ~1%;- ASD is difficult to diagnose in very young children. Delayed diagnosis leads to delay in applying behavioral therapies that may help to reduce symptoms, particularly when applied at young age; - Copy Number Variant (CNV) screening has been widely used for primary diagnosis purposes and is associated with phenotypic variability in ASD patients; - Large scale studies have identified hundreds of ASD implicated loci; however, mechanistic and clinical interpretation of these disease-causing variants remains elusive.engAutism Spectrum DisorderPerturbações do Desenvolvimento Infantil e Saúde MentalAutismoconference object