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Article

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

American journal of medical genetics. Part A - 15 Oct 2005

Rodríguez-Criado Germán, Magano Luis, Segovia Mabel, Gurrieri Fiorella, Neri Giovanni, González-Meneses Antonio, Gómez de Terreros Ignacio, Valdéz Rita, Gracia Ricardo, Lapunzina Pablo

Abstract excerpt

The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) is an overgrowth/multiple congenital anomalies syndrome caused by a semi-dominant X-linked gene encoding glypican 3 (GPC3). It shows great clinical variability, ranging from mild forms in carrier females to lethal forms with failure to thrive in males. The most consistent findings in SGBS are pre- and postnatal macrosomia, characteristic facial anomalies and...

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Source

Identifiers

PMID: 16158429
DOI: 10.1002/ajmg.a.30920

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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Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.PMID 16158429Read ↗

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

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