Marfan syndrome: current perspectives

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Appl Clin Genet
Prif Awduron: Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena, Abbate, Rosanna, Gensini, Gian Franco, Nistri, Stefano
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Dove Medical Press 2016
Pynciau:
Review
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4869846/
https://ncbi.nlm.nih.gov/pubmed/27274304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S96233
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