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Article

Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome.

American journal of medical genetics. Part A - 1 Aug 2021

Fernandes Carla, Paúl Alexandra, Venâncio Maria Margarida, Ramos Fabiana

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked condition characterized by pre and postnatal overgrowth with visceral and skeletal abnormalities. The syndrome is caused mainly by mutations in the X-linked gene GPC3. Clinical presentation of SGBS in affected males is well defined, but there is a lack of knowledge about affected females, with very few reported cases. In total, eight female carriers with...

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Identifiers

PMID: 34003580
DOI: 10.1002/ajmg.a.62263

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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