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Article

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.

Journal of neurodevelopmental disorders - 12 Feb 2020

Kohlenberg Teresa M, Trelles M Pilar, McLarney Brittany, Betancur Catalina, Thurm Audrey, Kolevzon Alexander

Abstract excerpt

BACKGROUND: 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 excitatory synapses. SHANK3 variants are also known to be associated with an increased risk for regression, as...

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Identifiers

PMID: 32050889
DOI: 10.1186/s11689-020-9309-6
PMCID: PMC7014655

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