Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways

Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotyp...

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Publicado no:Hum Genet
Main Authors: Hagen, Erin M., Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Dimopoulos, Aggeliki, Ahmad, Shabbir, Doleman, Margaret H., Fan, Ruzong, Romitti, Paul A., Browne, Marilyn L., Caggana, Michele, Brody, Lawrence C., Shaw, Gary M., Jelliffe-Pawlowski, Laura L., Mills, James L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065782/
https://ncbi.nlm.nih.gov/pubmed/27637763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1727-x
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