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Article

Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.

Journal of neurosurgery - 1 Jan 2005

Ito Susumu, Sekido Ken'ichi, Kanno Hiroshi, Sato Hironobu, Tanaka Masaaki, Yamaguchi Kazuo, Yamamoto Isao

Abstract excerpt

OBJECT: The goal of this study was to elucidate the genotype-phenotype relationship in syndromic craniosynostoses by analyzing the mutations of the fibroblast growth factor receptor (FGFR) gene and its clinical manifestations in patients, particularly those in atypical cases. METHODS: Twenty patients with craniosynostoses unrelated to Apert syndrome were enrolled in this study. The phenotypes indicated the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16206730
DOI: 10.3171/ped.2005.102.1.0023

Genes

FGFR2

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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