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

@article{Brosens2016CopyNV,
  title={Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula},
  author={Erwin Brosens and Florian Marsch and Elisabeth M. de Jong and Hitisha P. Zaveri and Alina C Hilger and Vera Gisela Choinitzki and Alice Catherine H{\"o}lscher and Per Hoffmann and Stefan Herms and Thomas Michael Boemers and Benno Manfred Ure and Martin Lacher and M. Ludwig and Bert H J Eussen and Robert M. van der Helm and Hannie J C W Douben and Diane Van Opstal and Rene Mh Wijnen and H. Berna Beverloo and Yolande van Bever and Alice S. Brooks and Hanneke IJsselstijn and Daryl A Scott and Johannes Schumacher and D Tibboel and Heiko M Reutter and Annelies J E M M de Klein},
  journal={European Journal of Human Genetics},
  year={2016},
  volume={24},
  pages={1715-1723}
}
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 contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and… CONTINUE READING