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Article

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

American journal of medical genetics. Part A - 1 Jan 2011

Gurrieri F, Pomponi M G, Pietrobono R, Lucci-Cordisco E, Silvestri E, Storniello G, Neri G

Abstract excerpt

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia. Psychomotor development is usually normal. The syndrome is caused by mutation/deletion of the X-linked gene GPC3. We describe a new case of SGBS, that led...

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Share to Arrhythmias, Cardiac
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21204223
DOI: 10.1002/ajmg.a.33586

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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