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Article

FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

American journal of medical genetics. Part A - 1 Dec 2016

Hibberd Christine E, Bowdin Sarah, Arudchelvan Yamini, Forrest Christopher R, Brakora Katherine A, Marcucio Ralph S, Gong Siew-Ging

Abstract excerpt

Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS), and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism, and in some cases, limb defects. Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known...

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Identifiers

PMID: 27481450
DOI: 10.1002/ajmg.a.37862
PMCID: PMC5503117

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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