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Article

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

Nature genetics - 1 Nov 1994

Jabs E W, Li X, Scott A F, Meyers G, Chen W, Eccles M, Mao J I, Charnas L R, Jackson C E, Jaye M

Abstract excerpt

Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the tyrosine kinase receptor superfamily, having a high affinity for peptides that signal the...

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Source

Identifiers

PMID: 7874170
DOI: 10.1038/ng1194-275

Genes

FGFR2

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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.

Related research

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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.PMID 7874170Read ↗

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

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

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

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.Semantic proximity Read ↗

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

The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.Semantic proximity Read ↗

The Fgfr2 W290R mouse model of Crouzon syndrome.Semantic proximity Read ↗

A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.Semantic proximity Read ↗

Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2.Semantic proximity Read ↗

FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.Semantic proximity Read ↗

Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.Semantic proximity Read ↗

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