Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic dissections and ruptures. TAA is a common complication in patients with bicuspid aortic valve (BAV). Recently, rare loss-of-function SMAD6 variants were...

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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Luyckx, Ilse, MacCarrick, Gretchen, Kempers, Marlies, Meester, Josephina, Geryl, Céline, Rombouts, Olivier, Peeters, Nils, Claes, Charlotte, Boeckx, Nele, Sakalihasan, Natzi, Jacquinet, Adeline, Hoischen, Alexander, Vandeweyer, Geert, Van Lent, Sarah, Saenen, Johan, Van Craenenbroeck, Emeline, Timmermans, Janneke, Duijnhouwer, Anthonie, Dietz, Harry, Van Laer, Lut, Loeys, Bart, Verstraeten, Aline
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2019
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777625/
https://ncbi.nlm.nih.gov/pubmed/30796334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0363-z
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