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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars