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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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Bibliografiske detaljer
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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2012
Fag:
Online adgang: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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