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Article

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Journal of medical genetics - 1 Jun 1997

Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst J A, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G

Abstract excerpt

AIMS OF THE STUDY: To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel syndrome (SGBS). SUBJECTS AND METHODS: PCR analysis using primer pairs which amplify fragments from each of the eight exons of the GPC3 gene was carried out in a series of 18 families with SGBS (approximately half of reported cases). RESULTS: Deletions were...

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Source

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Identifiers

PMID: 9192268
DOI: 10.1136/jmg.34.6.480
PMCID: PMC1050971

Genes

GPC3

Provenance

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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Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.PMID 9192268Read ↗

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