Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects

PURPOSE: The goal of this study was to identify the contribution of large copy number variants (CNV) to Down syndrome (DS) associated atrioventricular septal defects (AVSD), whose risk in the trisomic population is 2000-fold more compared to general disomic population. METHODS: Genome-wide CNV analy...

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Detalles Bibliográficos
Autores principales: Ramachandran, Dhanya, Mulle, Jennifer G., Locke, Adam E., Bean, Lora J.H., Rosser, Tracie C., Bose, Promita, Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Sherman, Stephanie L., Zwick, Michael E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408203/
https://www.ncbi.nlm.nih.gov/pubmed/25341113
http://dx.doi.org/10.1038/gim.2014.144

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