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Article

Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome.

Journal of paediatrics and child health - 1 Nov 2010

Quintero-Rivera Fabiola, Martinez-Agosto Julian A

Abstract excerpt

The differential diagnosis of exophthalmos requires careful examination to identify potentially serious aetiologies. We present the case of a child with exophthalmos in whom genetic analysis identified a mutation in the fibroblast growth factor receptor 2 associated with Crouzon syndrome. The var...

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Source

Identifiers

PMID: 20163525
DOI: 10.1111/j.1440-1754.2009.01692.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20163525-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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