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Article

Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.

Clinical genetics - 1 May 2024

Mitz Andrew R, Boccuto Luigi, Thurm Audrey

Abstract excerpt

Chromosome 22q13.3 deletion (Phelan-McDermid) syndrome (PMS, OMIM 606232) is a rare genetic condition that impacts neurodevelopment. PMS most commonly results from heterozygous contiguous gene deletions that include the SHANK3 gene or likely pathogenic variants of SHANK3 (PMS-SHANK3 related). Rarely, chromosomal rearrangements that spare SHANK3 share the same general phenotype (PMS-SHANK3 unrelated). Very recent...

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Identifiers

PMID: 38414139
DOI: 10.1111/cge.14503
PMCID: PMC11025605

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.PMID 38414139Read ↗

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