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

Abstract Background Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life‐threatening complications. Most of the cases are caused by mutations, a minor group of which ar...

Celý popis

Uloženo v:
Hlavní autoři: Gergely Buki, Renata Szalai, Adrienn Pinter, Kinga Hadzsiev, Bela Melegh, Tibor Rauch, Judit Bene
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley 2023-07-01
Edice:Molecular Genetics & Genomic Medicine
Témata:
cardiovascular manifestation
FBN1
large deletion
Marfan syndrome
regulatory DNA
On-line přístup:https://doi.org/10.1002/mgg3.2166
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