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Article

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

American journal of medical genetics. Part A - 15 Dec 2004

Zankl Andreas, Jaeger Gudrun, Bonafé Luisa, Boltshauser Eugen, Superti-Furga Andrea

Abstract excerpt

Mutations in the fibroblast growth factor receptor 2 (FGFR2) cause a variety of craniosynostosis syndromes. The mutational spectrum tends to be narrow with the majority of mutations occurring in either exon IIIa or IIIc or in the intronic sequence preceding exon IIIc. Mutations outside of this hotspot are uncommon and the few identified mutations have demonstrated wide clinical variability, making it difficult to...

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Source

Identifiers

PMID: 15523615
DOI: 10.1002/ajmg.a.30366

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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Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.PMID 15523615Read ↗

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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 ↗

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.Semantic proximity Read ↗

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.Semantic proximity Read ↗

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