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Article

Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.

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

Ariga H, Endo Y, Ujiie N, Ishii T, Ishibashi N, Fujita T, Suzuki H

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Share to Acrocephalosyndactylia
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Share to FGFR2 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

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Source

Identifiers

PMID: 11380927
DOI: 10.1046/j.1442-200x.2001.01379.x

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

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Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.PMID 11380927Read ↗

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.Semantic proximity Read ↗

FGFR2 mutations in Pfeiffer syndrome.Semantic proximity Read ↗

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.Semantic proximity Read ↗

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.Semantic proximity Read ↗

A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.Semantic proximity Read ↗

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.Semantic proximity Read ↗

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.Semantic proximity Read ↗

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Semantic proximity Read ↗

Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis.Semantic proximity Read ↗

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.Semantic proximity Read ↗

[A case of Pfeiffer syndrome caused by FGFR2 gene variation].Semantic proximity Read ↗

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.Semantic proximity Read ↗

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