Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of p...

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Bibliographic Details
Main Authors: Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ting Wang, J. Lloyd Holder, Catalina Betancur, Joseph D. Buxbaum, Alexander Kolevzon
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Molecular Autism
Subjects:
SHANK3
Phelan-McDermid syndrome
22q13 deletion syndrome
Sequence variants
Phenotype
Autism spectrum disorder
Online Access:http://link.springer.com/article/10.1186/s13229-018-0205-9

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http://link.springer.com/article/10.1186/s13229-018-0205-9

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