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Article

An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.

BMC medical genetics - 30 May 2018

Fan Jiayan, Li Yinwei, Jia Renbing, Fan Xianqun

Abstract excerpt

BACKGROUND: FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume of Crouzon syndrome and there was little direct evidence to show FGFR2 mutation actually influencing orbital morphology. METHODS: Ten Crouzon syndrome patients...

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Source

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Identifiers

PMID: 29848297
DOI: 10.1186/s12881-018-0607-8
PMCID: PMC5975660

Genes

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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