A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1 –0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this s...

Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao and Yuan Gao Tags: Case report Source Type: research