Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

BACKGROUND: Bicuspid aortic valve (BAV) is the most frequent congenital heart disease with frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV and Marfan syndrome (MFS) share some clinical features, and some MFS patients with BAV display mutations in FBN1, the g...

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Main Authors: Pepe, Guglielmina, Nistri, Stefano, Giusti, Betti, Sticchi, Elena, Attanasio, Monica, Porciani, Cristina, Abbate, Rosanna, Bonow, Robert O, Yacoub, Magdi, Gensini, Gian Franco
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3937520/
https://ncbi.nlm.nih.gov/pubmed/24564502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-23
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