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Article

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.

American journal of medical genetics. Part A - 1 Dec 2024

Nisbet Alex F, Viswanathan Aravind, George Andrew M, Arias Pedro, Klein Steven D, Nevado Julian, Parra Alejandro, Pascual Patricia, Romeo Dominic J, Tenorio-Castaño Jair, Taylor Jesse A, Zackai Elaine H, Lapunzina Pablo, Kalish Jennifer M

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2. Here, we performed a comprehensive literature review and phenotyping of known patients with molecularly confirmed SGBS and reviewed a novel cohort of 22 patients. Using...

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Arrhythmias, Cardiac
Beckwith-Wiedemann Syndrome
Genetic Diseases, X-Linked
Gigantism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heart Defects, Congenital

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Open in PubMed Open full text

Identifiers

PMID: 39158128
DOI: 10.1002/ajmg.a.63840
PMCID: PMC11540722

Genes

GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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