Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay
In human, pathogenic variants in smad3 are one cause of familial aortopathy. We describe a novel SMAD3 variant of unknown significance (VUS), V244F, in a patient who presented with aortic root dilation, right coronary artery ectasia, abdominal aortic aneurysm, right vertebral artery atresia, and cav...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2023-02-01
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| coleção: | Frontiers in Cardiovascular Medicine |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fcvm.2023.1103784/full |
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