Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding protein in excita...

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Bibliographic Details
Main Authors: Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm, Alexander Kolevzon
Format: Artigo
Language:English
Published: 2020
Online Access:https://doi.org/10.1186/s11689-020-9309-6
https://jneurodevdisorders.biomedcentral.com/track/pdf/10.1186/s11689-020-9309-6
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