Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding prote...

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Detalles Bibliográficos
Autores principales: Kohlenberg, Teresa M., Trelles, M. Pilar, McLarney, Brittany, Betancur, Catalina, Thurm, Audrey, Kolevzon, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014655/
https://www.ncbi.nlm.nih.gov/pubmed/32050889
http://dx.doi.org/10.1186/s11689-020-9309-6

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