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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...
Autores principales: | Vafaeie, Farzane, Miri Karam, Zahra, Yari, Abolfazl, Safarpour, Hossein, Kazemi, Tooba, Etesam, Shokoofeh, Mohammadpour, Mojtaba, Miri‐Moghaddam, Ebrahim |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
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 |
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