Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: (1) individuals with DS carr...

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Gepubliceerd in:G3 (Bethesda)
Hoofdauteurs: Rambo-Martin, Benjamin L., Mulle, Jennifer G., Cutler, David J., Bean, Lora J. H., Rosser, Tracie C., Dooley, Kenneth J., Cua, Clifford, Capone, George, Maslen, Cheryl L., Reeves, Roger H., Sherman, Stephanie L., Zwick, Michael E.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Genetics Society of America 2017
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Investigations
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5765339/
https://ncbi.nlm.nih.gov/pubmed/29141989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.117.300366
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