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Thoracic Aortic Disease in Two Patients with Juvenile Polyposis Syndrome and SMAD4 mutations
Dilation or aneurysm of the ascending aorta can progress to acute aortic dissection (Thoracic Aortic Aneurysms and Aortic Dissections, TAAD). Mutations in genes encoding TGF-β related proteins (TGFBR1, TGFBR2, FBN1, and SMAD3) cause syndromic and inherited TAAD. SMAD4 mutations are associated with j...
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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2012
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3535513/ https://ncbi.nlm.nih.gov/pubmed/23239472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35659 |
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