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...

Source: Orphanet Journal of Rare Diseases - October 15, 2020 Category: Internal Medicine Authors: Roland Stengl, Andr ás 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 Tags: Research Source Type: research