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Article

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

American journal of medical genetics - 16 Jul 1999

Okajima K, Robinson L K, Hart M A, Abuelo D N, Cowan L S, Hasegawa T, Maumenee I H, Jabs E W

Abstract excerpt

Fibroblast growth factor receptor (FGFR) mutations have been found in craniosynostosis syndromes with and without limb and/or dermatologic anomalies. Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior chamber, structural abnormalities have been reported until now. We evaluated three unrelated patients with severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

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Share to Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 10406670
DOI: 10.1002/(sici)1096-8628(19990716)85:2<160::aid-ajmg11>3.0.co;2-r

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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