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...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-04-01
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Series: | Revista Portuguesa de Cardiologia (English Edition) |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S217420492030115X |