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Article

Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma.

European journal of ophthalmology - 1 Jan 2000

Milla Elena, Leszczynska Ania, Rey Amanda, Navarro Manuel, Larena Concepcion

Abstract excerpt

PURPOSE: We report the case of a 41-year-old woman with bilateral lens subluxation and medically uncontrolled glaucoma in whom Marfan syndrome (MFS) was diagnosed. METHODS: The patient underwent complete clinical eye and systemic examinations and blood samples were drawn for mutational screening of fibrillin 1 gene (FBN1). RESULTS: The patient was diagnosed with MFS on a clinical basis and according to the Ghent...

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Source

Identifiers

PMID: 22034023
DOI: 10.5301/ejo.5000070

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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