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Article

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.

European journal of medical genetics - 1 May 2023

Vitrac Aline, Leblond Claire S, Rolland Thomas, Cliquet Freddy, Mathieu Alexandre, Maruani Anna, Delorme Richard, Schön Michael, Grabrucker Andreas M, van Ravenswaaij-Arts Conny, Phelan Katy, Tabet Anne-Claude, Bourgeron Thomas

Abstract excerpt

SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an important genetic and phenotypic diversity among patients who can present with developmental delay, language impairments, autism, epilepsy, and other symptoms. SHANK3, encoding a synaptic scaffolding protein, is deleted in the majority of...

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Identifiers

PMID: 36822569
DOI: 10.1016/j.ejmg.2023.104732

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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