SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. At the same time, SMAD4 pathogenic variants have not been reported in thoracic aortic disease families without JPS-HHT. A SMAD4...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Duan, Xue-Yan, Guo, Dong-chuan, Regalado, Ellen S., Shen, Hong, Coselli, Joseph S., Estrera, Anthony L., Safi, Hazim J., Bamshad, Michael J., Nickerson, Deborah A., LeMaire, Scott A., De Backer, Julie, Milewicz, Dianna M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777456/
https://ncbi.nlm.nih.gov/pubmed/30809044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0357-x
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