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Article

Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jun 2001

Tsai F J, Yang C F, Wu J Y, Tsai C H, Lee C C

Abstract excerpt

BACKGROUND: Crouzon syndrome is an autosomal dominant disorder causing premature fusion of the cranial suture. Mutations have been reported in exon IIIa or IIIc of the fibroblast growth factor receptor 2 (FGFR2) gene. METHODS: In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing. RESULTS: Mutations...

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Source

Identifiers

PMID: 11380921
DOI: 10.1046/j.1442-200x.2001.01392.x

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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