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Article

A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.

American journal of medical genetics. Part A - 1 Mar 2014

Jedraszak Guillaume, Girard Muriel, Mellos Antonio, Djeddi Djamal-Dine, Chardot Christophe, Vanrenterghem Audrey, Moizard Marie-Pierre, Gondry Jean, Sevestre Henri, Mathieu-Dramard Michele, Lacaille Florence, Demeer Benedicte

Abstract excerpt

Simpson-Golabi-Behmel syndrome type 1 (SGBS1) -OMIM 312870- is a rare X-linked inherited overgrowth syndrome caused by a loss of function mutation in the GPC3 gene. Affected patients present a variable phenotype with pre- and post-natal macrosomia, distinctive facial dysmorphism, organomegaly, and multiple congenital anomalies. Intellectual disability is not constant. About 10% of patients have an increased risk...

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Source

Identifiers

PMID: 24357529
DOI: 10.1002/ajmg.a.36335

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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