Articles with "annuloaortic ectasia" as a keyword



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Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

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Published in 2022 at "Genes"

DOI: 10.3390/genes13112108

Abstract: Marfan syndrome (MFS) is a hereditary connective tissue disease whose clinical severity varies widely. Mutations of the FBN1 gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS… read more here.

Keywords: fbn1 gene; marfan syndrome; 5225 variant; gene ... See more keywords