Article
Marfan syndrome.
Nature reviews. Disease primers - 2 Sept 2021
Milewicz Dianna M, Braverman Alan C, De Backer Julie, Morris Shaine A, Boileau Catherine, Maumenee Irene H, Jondeau Guillaume, Evangelista Arturo, Pyeritz Reed E
Abstract excerpt
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries, the pericondrium and structures in the eye. Up to 25% of...
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