Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic...

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Pubblicato in:Sci Rep
Autori principali: Trevino, Cristina E., Holleman, Aaron M., Corbitt, Holly, Maslen, Cheryl L., Rosser, Tracie C., Cutler, David J., Johnston, H. Richard, Rambo-Martin, Benjamin L., Oberoi, Jai, Dooley, Kenneth J., Capone, George T., Reeves, Roger H., Cordell, Heather J., Keavney, Bernard D., Agopian, A.J., Goldmuntz, Elizabeth, Gruber, Peter J., O’Brien, James E., Bittel, Douglas C., Wadhwa, Lalita, Cua, Clifford L., Moskowitz, Ivan P., Mulle, Jennifer G., Epstein, Michael P., Sherman, Stephanie L., Zwick, Michael E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7582922/
https://ncbi.nlm.nih.gov/pubmed/33093519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-74650-4
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