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

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

Clinica Chimica Acta（2020）

引用 14|浏览22

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摘要

•Mutational screening of the FBN1 gene for the diagnosis of Marfan Syndrome (MFS).•Detection rate for FBN1 variants in the study group is 86.3% (107/124 patients).•FBN1 screening facilitates MFS diagnosis specially in young presymptomatic patients.•Multidisciplinary clinical evaluation improves MFS management and outcomes.

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关键词

Marfan syndrome,MFS,FBN1,Gene variants,NGS

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