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Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

BACKGROUND: Marfan syndrome (MFS) is a multi‐systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic aneurysms/dissections, along with various manifestations of the ocular and skeletal systems. Due to the genetic and clinical heterogeneity, the...

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Detalles Bibliográficos
Autores principales:	Bitarafan, Fatemeh, Razmara, Ehsan, Khodaeian, Mehrnoosh, Keramatipour, Mohammad, Kalhor, Alireza, Jafarinia, Ehsan, Garshasbi, Masoud
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434737/ https://www.ncbi.nlm.nih.gov/pubmed/32431097 http://dx.doi.org/10.1002/mgg3.1274

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