A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations

• Main Authors: Jiansheng Lin (Author), Yanyu Lin (Author), Gaoxiong Wang (Author)
• פורמט: ספר
• יצא לאור: BMC, 2023-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic systems. This report aimed to describe a novel genetic background and treatment prognosis of MFS. Case presentation A proband was initially diagnos...