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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Autism
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2018
Aiheet:
Research
Linkit: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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