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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...

詳細記述

保存先:
書誌詳細
出版年:Mol Autism
主要な著者: Kolevzon, Alexander, Delaby, Elsa, Berry-Kravis, Elizabeth, Buxbaum, Joseph D., Betancur, Catalina
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6930682/
https://ncbi.nlm.nih.gov/pubmed/31879555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-019-0291-3
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