Autism is a developmental disorder that starts before age 3 years, and children with autism
have impairment in both social interaction and communication, and have restricted …

Highlights•Haploinsufficiency is caused a heterozygous loss-of-function gene
mutation.•Because of the presence of a normal allele, haploinsufficiency is a unique group …

Human telencephalon is an evolutionarily advanced brain structure associated with many
uniquely human behaviors and disorders. However, cell lineages and molecular pathways …

Mutations in Shank3 are strongly associated with autism spectrum disorders and neural
circuit changes in several brain areas, but the cellular mechanisms that underlie these …

Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on
chromosome 22q13. 33 and is characterized by intellectual disability, hypotonia, severe …

Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents
with a disturbed development, neurological and psychiatric characteristics, and sometimes …

We describe an autosomal dominant disorder associated with loss-of-function variants in the
Cell cycle associated protein 1 (CAPRIN1; MIM* 601178). CAPRIN1 encodes a ubiquitous …

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with
heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed …

Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized
by impaired social interaction and communication, and repetitive or restricted behaviors …

Abstract Development of effective therapeutics for neurological disorders has historically
been challenging partly because of lack of accurate model systems in which to investigate …