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Article

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2020

Mannucci Liliana, Luciano Serena, Salehi Leila B, Gigante Laura, Conte Chiara, Longo Giuliana, Ferradini Valentina, Piumelli Nunzia, Brancati Francesco, Ruvolo Giovanni, Novelli Giuseppe, Sangiuolo Federica

Abstract excerpt

BACKGROUND: Marfan Syndrome (MFS) is a chronic, life-threatening, autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, coding for fibrillin-1. All organ systems may be affected, but particularly the cardiovascular system, eyes, and skeleton. Mortality generally results from cardiovascular complications, mainly aortic dissection. Currently, the diagnosis of MFS is based on the...

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PMID: 31730815
DOI: 10.1016/j.cca.2019.10.037

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