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

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

Abstract Background 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 of the FBN1 gene. Our aim was to identify mutations of MFS patients with...

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Bibliographic Details
Main 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, Kálmán Benke
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Marfan syndrome
Genetic testing
Aortic involvement
Risk stratification
FBN1
Next-generation sequencing
Online Access:http://link.springer.com/article/10.1186/s13023-020-01569-4

Internet

http://link.springer.com/article/10.1186/s13023-020-01569-4

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