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Article

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Nature genetics - 1 Feb 1995

Rutland P, Pulleyn L J, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter R M, Oldridge M, Slaney S F

Abstract excerpt

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, wher...

Topics

Acrocephalosyndactylia
Base Sequence
Craniofacial Dysostosis
Female
Humans
Male
Molecular Sequence Data
Mutation
Phenotype
Receptor Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 7719345
DOI: 10.1038/ng0295-173

Genes

FGFR2
FGFR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7719345-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.PMID 7719345Read ↗

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.Semantic proximity Read ↗

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

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.Semantic proximity Read ↗

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.Semantic proximity Read ↗

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.Semantic proximity Read ↗

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.Semantic proximity Read ↗

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).Semantic proximity Read ↗

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.Semantic proximity Read ↗

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.Semantic proximity Read ↗

Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.Semantic proximity Read ↗

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.Semantic proximity Read ↗

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.Semantic proximity Read ↗

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