Marfan's syndrome - inheritance, diagnostic methods, management in disease

• Main Authors: Kinga Grużewska-Piotrowska (Author), Monika Pająk (Author), Joanna Hubka (Author), Wojciech Wcisło (Author)
• פורמט: ספר
• יצא לאור: Nicolaus Copernicus University in Toruń, 2023-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Introduction: Marfan's syndrome (MFS) is a systemic, autosomal dominant connective tissue disease. It is caused mainly by the mutations in the FBN1 gene and is connected with extracellular matrix protein fibrillin-1. The incidence is about 2-3 per 10 000. About 70-75% of cases are inherited in...