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Article

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Journal of medical genetics - 1 Aug 2003

Wilson H L, Wong A C C, Shaw S R, Tse W-Y, Stapleton G A, Phelan M C, Hu S, Marshall J, McDermid H E

Abstract excerpt

METHODS: The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of expressive speech, hypotonia, normal to accelerated growth, and mild dysmorphic features. We have determined the deletion size and parent of origin in 56 patients with t...

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Identifiers

PMID: 12920066
DOI: 10.1136/jmg.40.8.575
PMCID: PMC1735560

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12920066-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.PMID 12920066Read ↗

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