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Article

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

American journal of human genetics - 1 May 1996

Slaney S F, Oldridge M, Hurst J A, Moriss-Kay G M, Hall C M, Poole M D, Wilkie A O

Abstract excerpt

Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Fibroblast Growth Factor

Source

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Identifiers

PMID: 8651276
PMCID: PMC1914616

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.PMID 8651276Read ↗

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

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.Semantic proximity Read ↗

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.Semantic proximity Read ↗

Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.Semantic proximity Read ↗

Clinical variability in patients with Apert's syndrome.Semantic proximity Read ↗

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.Semantic proximity Read ↗

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.Semantic proximity Read ↗

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.Semantic proximity Read ↗

Understanding the molecular basis of Apert syndrome.Semantic proximity Read ↗

S252W mutation in Indian patients of Apert syndrome.Semantic proximity Read ↗

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.Semantic proximity Read ↗

Craniosynostosis and related limb anomalies.Semantic proximity Read ↗

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