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

• প্রধান লেখক: Yuping Niu (লেখক), Sexin Huang (লেখক), Zeyu Wang (লেখক), Peiwen Xu (লেখক), Lijuan Wang (লেখক), Jie Li (লেখক), Ming Gao (লেখক), Xuan Gao (লেখক), Yuan Gao (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2020-10-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract Background 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 study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense v...