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Article

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.

American journal of medical genetics. Part A - 1 Dec 2014

Bessenyei Beáta, Tihanyi Mariann, Hartwig Marianna, Szakszon Katalin, Oláh Éva

Abstract excerpt

Pfeiffer syndrome is an autosomal dominant disorder classically characterized by craniosynostosis, facial dysmorphism and limb anomalies. The majority of cases are caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. A specific, rare mutation p.Pro252Arg, located between the second and third extracellular immunoglobulin-like domain of FGFR1, is associated with mild clinical signs. We...

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Source

Identifiers

PMID: 25251565
DOI: 10.1002/ajmg.a.36774

Genes

FGFR1
FGFR2

Variants

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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