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Novel SMAD3 p.Arg386Thr genetic variant co‐segregating with thoracic aortic aneurysm and dissection
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 sequenci...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7196476/ https://ncbi.nlm.nih.gov/pubmed/32022471 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1089 |
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