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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921983/
https://www.ncbi.nlm.nih.gov/pubmed/29719671
http://dx.doi.org/10.1186/s13229-018-0205-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921983/
https://www.ncbi.nlm.nih.gov/pubmed/29719671
http://dx.doi.org/10.1186/s13229-018-0205-9

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