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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Detalhes bibliográficos
Publicado no:Mol Autism
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha: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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