Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement | Orphanet Journal of Rare Diseases | Full Text

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement | Orphanet Journal of Rare Diseases | Full Text

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations o...

Authors:Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs and Kálmán Benke

Citation:Orphanet Journal of Rare Diseases 2020 15:290

Content type:Research

 

Published on: 15 October 2020

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