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...

Full description

Saved in:
Bibliographic Details
Published in:Appl Clin Genet
Main Authors: Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena, Abbate, Rosanna, Gensini, Gian Franco, Nistri, Stefano
Format: Artigo
Language:Inglês
Published: Dove Medical Press 2016
Subjects:
Review
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items