A novel FBN1 variant in a large marfan family with high penetrance of aortic dissection or rupture

Maria Rasmussen*, Steen Fjord Pedersen, Lone Sunde, Niels Holmmark Andersen, John R. Østergaard, Dorte L. Lildballe

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology