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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha: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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