An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder have a structurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is not causal for abnormal heart development. Atrioventricular septal defects (AVSD) are the most commonly...

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Detaylı Bibliyografya
Asıl Yazarlar: Ackerman, Christine, Locke, Adam E., Feingold, Eleanor, Reshey, Benjamin, Espana, Karina, Thusberg, Janita, Mooney, Sean, Bean, Lora J.H., Dooley, Kenneth J., Cua, Clifford L., Reeves, Roger H., Sherman, Stephanie L., Maslen, Cheryl L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2012
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484504/
https://ncbi.nlm.nih.gov/pubmed/23040494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.017
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