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Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome.

Genetic testing and molecular biomarkers - 1 Aug 2018

Kayhan Gulsum, Ergun Mehmet Ali, Ergun Sezen Guntekin, Kula Serdar, Percin Ferda E

Abstract excerpt

BACKGROUND: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported. METHODS: In the present study, FBN1 sequence analysis was performed in a family and two unrelated patients with MS. RESULTS: Three novel pathogenic variants were...

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PMID: 30048161
DOI: 10.1089/gtmb.2017.0286

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FBN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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