Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study

Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study

Abstract Background and Aims Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by pathogenic variants of the fibrillin‐1‐encoding FBN1 gene that commonly affects the cardiovascular, skeletal, and ocular systems. This study aimed to evaluate the clinical features and genetic caus...

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Bibliographic Details
Main Authors: Farzane Vafaeie, Zahra Miri Karam, Abolfazl Yari, Hossein Safarpour, Tooba Kazemi, Shokoofeh Etesam, Mojtaba Mohammadpour, Ebrahim Miri‐Moghaddam
Format: Article
Language:English
Published: Wiley 2023-10-01
Series:Health Science Reports
Subjects:
FBN1
Marfan syndrome
molecular docking
pathogenic variant
whole exome sequence
Online Access:https://doi.org/10.1002/hsr2.1647

Internet

https://doi.org/10.1002/hsr2.1647

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