Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Brosens, Erwin, Marsch, Florian, de Jong, Elisabeth M, Zaveri, Hitisha P, Hilger, Alina C, Choinitzki, Vera Gisela, Hölscher, Alice, Hoffmann, Per, Herms, Stefan, Boemers, Thomas M, Ure, Benno M, Lacher, Martin, Ludwig, Michael, Eussen, Bert H, van der Helm, Robert M, Douben, Hannie, Van Opstal, Diane, Wijnen, Rene M H, Beverloo, H Berna, van Bever, Yolande, Brooks, Alice S, IJsselstijn, Hanneke, Scott, Daryl A, Schumacher, Johannes, Tibboel, Dick, Reutter, Heiko, de Klein, Annelies
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117935/
https://ncbi.nlm.nih.gov/pubmed/27436264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.86
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