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

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 causes of th...

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Detalles Bibliográficos
Autores principales: Vafaeie, Farzane, Miri Karam, Zahra, Yari, Abolfazl, Safarpour, Hossein, Kazemi, Tooba, Etesam, Shokoofeh, Mohammadpour, Mojtaba, Miri‐Moghaddam, Ebrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10591539/
https://www.ncbi.nlm.nih.gov/pubmed/37877128
http://dx.doi.org/10.1002/hsr2.1647

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10591539/
https://www.ncbi.nlm.nih.gov/pubmed/37877128
http://dx.doi.org/10.1002/hsr2.1647

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