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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Detalles Bibliográficos
Autores principales: Burdeus-Olavarrieta, Mónica, San José-Cáceres, Antonia, García-Alcón, Alicia, González-Peñas, Javier, Hernández-Jusdado, Patricia, Parellada-Redondo, Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8272382/
https://www.ncbi.nlm.nih.gov/pubmed/34246244
http://dx.doi.org/10.1186/s11689-021-09370-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8272382/
https://www.ncbi.nlm.nih.gov/pubmed/34246244
http://dx.doi.org/10.1186/s11689-021-09370-5

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