Novel SMAD3 p.Arg386Thr genetic variant co‐segregating with thoracic aortic aneurysm and dissection
Abstract Background Pathogenic variants in the SMAD3 gene affecting the TGF‐β/SMAD3 signaling pathway with aortic vessel involvement cause Loeys‐Dietz syndrome 3, also known as aneurysms–osteoarthritis syndrome. Methods Description of clinical history of a family in Sweden using clinical data, DNA s...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1089 |