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...
| Main Authors: | , , , , , , |
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| 格式: | 文件 |
| 语言: | English |
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Wiley
2020-08-01
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| 丛编: | Molecular Genetics & Genomic Medicine |
| 主题: | |
| 在线阅读: | https://doi.org/10.1002/mgg3.1274 |