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Article

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Orphanet journal of rare diseases - 27 Aug 2015

Oberman Lindsay M, Boccuto Luigi, Cascio Lauren, Sarasua Sara, Kaufmann Walter E

Abstract excerpt

BACKGROUND: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disorder (ASD). Diagnosis of ASD in individuals with PMS is complicated by the presence of moderate to profound global...

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Identifiers

PMID: 26306707
DOI: 10.1186/s13023-015-0323-9
PMCID: PMC4549933

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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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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.PMID 26306707Read ↗

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