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

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 point mut...

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Dettagli Bibliografici
Pubblicato in:Mol Autism
Autori principali: De Rubeis, Silvia, Siper, Paige M., Durkin, Allison, Weissman, Jordana, Muratet, François, Halpern, Danielle, Trelles, Maria del Pilar, Frank, Yitzchak, Lozano, Reymundo, Wang, A. Ting, Holder, J. Lloyd, Betancur, Catalina, Buxbaum, Joseph D., Kolevzon, Alexander
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5921983/
https://ncbi.nlm.nih.gov/pubmed/29719671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-018-0205-9
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