Marfan syndrome revisited: From genetics to clinical practice

Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have reveale...

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Bibliographic Details
Main Authors: Sónia Gomes Coelho, Ana G. Almeida
Format: Article
Language:English
Published: Elsevier 2020-04-01
Series:Revista Portuguesa de Cardiologia (English Edition)
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S217420492030115X