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Article

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

Human molecular genetics - 1 Sept 1998

Anderson J, Burns H D, Enriquez-Harris P, Wilkie A O, Heath J K

Abstract excerpt

Dominantly acting mutations of the fibroblast growth factor (FGF) receptor 2 (FGFR2) gene have been implicated in various craniosynostosis syndromes. Apert syndrome, characterized in addition by syndactyly of the limbs, involves specific mutations at two adjacent residues, Ser252Trp and Pro253Arg, predicted to lie in the linker region between IgII and IgIII of the FGFR2 ligand-binding domain. We have analysed the...

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Source

Identifiers

PMID: 9700203
DOI: 10.1093/hmg/7.9.1475

Genes

FGFR2
FGF2

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.

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Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.PMID 9700203Read ↗

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

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.Semantic proximity Read ↗

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

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

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes.Semantic proximity Read ↗

FGF2 effects in periosteal fibroblasts bearing the FGFR2 receptor Pro253 Arg mutation.Semantic proximity Read ↗

Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.Semantic proximity Read ↗

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

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