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

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

Abstract 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 heterogene...

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Bibliographic Details
Main Authors: Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
FBN1
Marfan syndrome
next‐generation sequencing
novel variants
TGFBR2
Online Access:https://doi.org/10.1002/mgg3.1274

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