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Article

Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Apr 2016

Latasiewicz Marta, Fontecilla Christian, Millá Elena, Sánchez Aurora

Abstract excerpt

OBJECTIVE: To analyze ocular involvement in patients diagnosed with Marfan syndrome (MFS), study their clinical findings and prognosis based on the type of FBN1 mutation, and evaluate possible genotype-phenotype correlations. DESIGN: Observational single-centre case series. PARTICIPANTS: Eleven patients diagnosed with MFS were included. All subjects met the Ghent criteria of MFS, the diagnosis was confirmed by...

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Identifiers

PMID: 27085269
DOI: 10.1016/j.jcjo.2015.12.019

Genes

FBN1

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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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