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Article

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

American journal of medical genetics. Part A - 1 Jan 2017

Vaisfeld Alessandro, Pomponi Maria Grazia, Pietrobono Roberta, Tabolacci Elisabetta, Neri Giovanni

Abstract excerpt

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. Conversely, there is little information regarding affected females, with very few reported cases, and a clinical definition of this phenotype is still lacking. In the present report we...

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Source

Identifiers

PMID: 27739211
DOI: 10.1002/ajmg.a.38003

Genes

GPC3

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.PMID 27739211Read ↗

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Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.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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