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Article

Phelan-McDermid syndrome: clinical report of a 70-year-old woman.

American journal of medical genetics. Part A - 1 Jan 2013

Verhoeven Willem M A, Egger Jos I M, Cohen-Snuijf Ruthy, Kant Sarina G, de Leeuw Nicole

Abstract excerpt

Phelan-McDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data about adult patients are virtually absent. The expression of its phenotypical characteristics appears to be linearly...

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Identifiers

PMID: 23166010
DOI: 10.1002/ajmg.a.35597

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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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