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Article

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.

American journal of human genetics - 1 Sept 1999

Brzustowicz L M, Farrell S, Khan M B, Weksberg R

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome with associated visceral and skeletal abnormalities. Alterations in the glypican-3 gene (GPC3), which is located on Xq26, have been implicated in the etiology of relatively milder cases of this disorder. Not all individuals with SGBS have demonstrated disruptions of the GPC3 locus, which raises the possibility that other loci on the X...

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Source

Open in PubMed Open full text

Identifiers

PMID: 10441586
DOI: 10.1086/302527
PMCID: PMC1377986

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.

Related research

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Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.PMID 10441586Read ↗

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.Semantic proximity Read ↗

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.Semantic proximity Read ↗

Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.Semantic proximity Read ↗

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

Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.Semantic proximity Read ↗

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.Semantic proximity Read ↗

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.Semantic proximity Read ↗

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.Semantic proximity Read ↗

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