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Article

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

Human genetics - 1 Nov 1997

Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia P A

Abstract excerpt

Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations. This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of this syndrome and of at least four other craniosynostotic...

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Source

Identifiers

PMID: 9385368
DOI: 10.1007/s004390050584

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.PMID 9385368Read ↗

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

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 ↗

Description of a new mutation and characterization ofFGFR1, FGFR2, andFGFR3 mutations among Brazilian patients with syndromic craniosynostosesSemantic proximity Read ↗

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.Semantic proximity Read ↗

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

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer 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 ↗

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

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.Semantic proximity Read ↗

Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.Semantic proximity Read ↗

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