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Article

GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

American journal of medical genetics. Part A - 1 Aug 2007

Sakazume Satoru, Okamoto Nobuhiko, Yamamoto Toshiyuki, Kurosawa Kenji, Numabe Hironao, Ohashi Yuko, Kako Yuko, Nagai Toshiro, Ohashi Hirohumi

Abstract excerpt

We analyzed mutations of the GPC3gene in seven males with typical manifestations of Simpson-Golabi-Behmel syndrome (SGBS). Genomic DNA was PCR amplified for its all eight exons and exon-intron boundaries using designed set of primers, and PCR products were directly sequenced. All seven males studied had mutations: One patient had a large deletion spanning introns 6 and 7, four each had a C --> T base substitution...

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Source

Identifiers

PMID: 17603795
DOI: 10.1002/ajmg.a.31822

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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