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Article

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

American journal of medical genetics - 11 Dec 1996

Hughes-Benzie R M, Pilia G, Xuan J Y, Hunter A G, Chen E, Golabi M, Hurst J A, Kobori J, Marymee K, Pagon R A, Punnett H H, Schelley S, Tolmie J L, Wohlferd M M, Grossman T, Schlessinger D, MacKenzie A E

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996]. We have used Southern blot analysis and polymerase chain reaction amplification of intra-exonic se...

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Source

Identifiers

PMID: 8958336
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U

Genes

GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8958336-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.PMID 8958336Read ↗

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 ↗

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

GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.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 ↗

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

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.Semantic proximity Read ↗

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

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.Semantic proximity Read ↗

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

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

Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

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

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