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Article

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

American journal of medical genetics - 1 Aug 2001

Li M, Shuman C, Fei Y L, Cutiongco E, Bender H A, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong S L, Geraghty M T, Squire J, Weksberg R

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes. We performed GPC3 deletion screening on 80 male patients with somatic overgrowth in the following categories: SGBS...

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Source

Identifiers

PMID: 11477610
DOI: 10.1002/1096-8628(20010801)102:2<161::aid-ajmg1453>3.0.co;2-o

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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GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.PMID 11477610Read ↗

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