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Article

Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation.

Molecular genetics & genomic medicine - 1 Dec 2021

Kankuri-Tammilehto Minna, Sauna-Aho Oili, Arvio Maria

Abstract excerpt

BACKGROUND: Phelan-McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and features of autism spectrum disorder and susceptibility to psychotic behavior. Here, we describe a neurocognitive follow-up and genetic etiology for two siblings with PMD....

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Identifiers

PMID: 34369668
DOI: 10.1002/mgg3.1780
PMCID: PMC8683620

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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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