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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.33 and is characterized by intellectual disability, hypotonia, severe speech impairments, and autism spectrum disorder. Emerging evidence indicates that there are changes over time in the phenotype...

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Detalles Bibliográficos
Autores principales: Kolevzon, Alexander, Delaby, Elsa, Berry-Kravis, Elizabeth, Buxbaum, Joseph D., Betancur, Catalina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930682/
https://www.ncbi.nlm.nih.gov/pubmed/31879555
http://dx.doi.org/10.1186/s13229-019-0291-3