SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic imbalances involved, each contributing to a very small fraction of cases. In this issue of Molecular Autism, Soorya and colleagues evaluated 32 patients with Phelan-McDermid...

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Detalles Bibliográficos
Autores principales: Betancur, Catalina, Buxbaum, Joseph D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Editorial
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695795/
https://www.ncbi.nlm.nih.gov/pubmed/23758743
http://dx.doi.org/10.1186/2040-2392-4-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695795/
https://www.ncbi.nlm.nih.gov/pubmed/23758743
http://dx.doi.org/10.1186/2040-2392-4-17

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