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Article

[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].

Nederlands tijdschrift voor geneeskunde - 12 Jan 2002

van Ravenswaaij-Arts C M A, van den Ouweland A M W, Hoogeboom A J M, Herbergs J, Pals G

Abstract excerpt

One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascade of signals that influence cell division and differentiation. FGFR2 mutations have been found in the Apert, Crouzon...

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Source

Identifiers

PMID: 11820058

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.

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[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].PMID 11820058Read ↗

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

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.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 ↗

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

Molecular genetics of craniosynostotic syndromes.Semantic proximity Read ↗

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