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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Detalles Bibliográficos
Autores principales: Sheppard, Mary B., Smith, Jeffrey D., Bergmann, Lisa L., Famulski, Jakub K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011127/
https://www.ncbi.nlm.nih.gov/pubmed/36926042
http://dx.doi.org/10.3389/fcvm.2023.1103784

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011127/
https://www.ncbi.nlm.nih.gov/pubmed/36926042
http://dx.doi.org/10.3389/fcvm.2023.1103784

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