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Article

Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.

American journal of medical genetics. Part A - 1 Apr 2016

Halayem Soumeyya, Hamza Mariem, Maazoul Faouzi, Ben Turkia Hadhemi, Touati Maissa, Tebib Neji, Mrad Ridha, Bouden Asma

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre and post natal overgrowth, facial malformations, and visceral, skeletal, and neurological anomalies. The physical characteristics of SGBS have been well documented; however there is a lack of description regarding the behavioral phenotype. We report the case of a 6-year-old boy, with confirmed deletion of 6-8 exons of the...

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Source

Identifiers

PMID: 26692054
DOI: 10.1002/ajmg.a.37518

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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