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Article

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2003

Mariani Sabrina, Iughetti Lorenzo, Bertorelli Roberto, Coviello Domenico, Pellegrini Massimo, Forabosco Antonino, Bernasconi Sergio

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome with associated visceral and skeletal anomalies. Deletions or point mutations involving the glypican-3 (GPC3) gene at Xq26 are associated with a relatively milder form of this disorder (SGBS1). GPC3 encodes a putative extracellular proteoglycan, glypican-3, that is inferred to play an important role in growth control in embryonic mesodermal...

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Source

Identifiers

PMID: 12713262
DOI: 10.1515/jpem.2003.16.2.225

Genes

GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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