Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.

Gergely Buki,Renata Szalai, Adrienn Pinter,Kinga Hadzsiev,Bela Melegh,Tibor Rauch,Judit Bene

Molecular genetics & genomic medicine（2023）

引用 2|浏览11

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摘要

Our study demonstrated that large CNVs are often associated with severe cardiovascular manifestations in MFS and the localization of these CNVs affect the phenotype severity.

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关键词

FBN1 ,Marfan syndrome,cardiovascular manifestation,large deletion,regulatory DNA

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