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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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Podrobná bibliografie
Vydáno v:Mol Autism
Hlavní autoři: Kolevzon, Alexander, Delaby, Elsa, Berry-Kravis, Elizabeth, Buxbaum, Joseph D., Betancur, Catalina
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
On-line přístup: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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