Characterisation of the clinical phenotype in Phelan-McDermid syndrome

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developme...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:J Neurodev Disord
Asıl Yazarlar: Burdeus-Olavarrieta, Mónica, San José-Cáceres, Antonia, García-Alcón, Alicia, González-Peñas, Javier, Hernández-Jusdado, Patricia, Parellada-Redondo, Mara
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8272382/
https://ncbi.nlm.nih.gov/pubmed/34246244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-021-09370-5
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