fibrillin-1(English)

• mutations in this gene in patients with Marfan syndrome (MFS) result in a loss of microfibril production, which is required for proper assembly and structure of elastin. Also denoted as FBN1
• MFS, PWV, STJ, BAV, TAV
• Cardiology, Vascular disease, Congenital disorders, Biophysics, Medical imaging
• https://doi.org…3/ejcts/ezaf293