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Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD), affecting 1–2% of the population. BAV is associated with thoracic aortic aneurysms (TAAs). Deleterious copy number variations (CNVs) were found previously in up to 10% of CHD cases. This study aimed at unravelling the cont...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Luyckx, Ilse, Kumar, Ajay A., Reyniers, Edwin, Dekeyser, Emily, Vanderstraeten, Kathleen, Vandeweyer, Geert, Wünnemann, Florian, Preuss, Christoph, Mazzella, Jean-Michaël, Goudot, Guillaume, Messas, Emmanuel, Albuisson, Juliette, Jeunemaitre, Xavier, Eriksson, Per, Mohamed, Salah A., Kempers, Marlies, Salemink, Simone, Duijnhouwer, Anthonie, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777542/
https://ncbi.nlm.nih.gov/pubmed/30820038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0364-y
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