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

• 主要な著者: Yuping Niu (著者), Sexin Huang (著者), Zeyu Wang (著者), Peiwen Xu (著者), Lijuan Wang (著者), Jie Li (著者), Ming Gao (著者), Xuan Gao (著者), Yuan Gao (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...