Characterisation of the clinical phenotype in Phelan-McDermid syndrome

Characterisation of the clinical phenotype in Phelan-McDermid syndrome

Abstract 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 d...

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Bibliographic Details
Main Authors: Mónica Burdeus-Olavarrieta, Antonia San José-Cáceres, Alicia García-Alcón, Javier González-Peñas, Patricia Hernández-Jusdado, Mara Parellada-Redondo
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Phelan-McDermid syndrome
22q13 deletion syndrome
SHANK3
Intellectual disability
Autism
Online Access:https://doi.org/10.1186/s11689-021-09370-5

Internet

https://doi.org/10.1186/s11689-021-09370-5

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