Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
In: European Journal of Human Genetics, Jg. 24 (2016-07-20), S. 1715-1723
Online
unknown
Zugriff:
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 German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts. We identified 167 rare CNVs containing genes (frequency
| Titel: |
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
|
|---|---|
| Autor/in / Beteiligte Person: | Brosens, Erwin ; H. Berna Beverloo ; Zaveri, Hitisha P. ; Ludwig, Michael ; Lacher, Martin ; Ure, Benno M. ; Scott, Daryl A. ; Robert van der Helm ; Hölscher, Alice ; Elisabeth M. de Jong ; Diane Van Opstal ; Annelies de Klein ; Marsch, Florian ; Tibboel, Dick ; Hilger, Alina C. ; Boemers, Thomas M. ; Wijnen, Rene M. H. ; Brooks, Alice S. ; Herms, Stefan ; Choinitzki, Vera ; IJsselstijn, Hanneke ; Hoffmann, Per ; Douben, Hannie ; Schumacher, Johannes ; Yolande van Bever ; Bert H.J. Eussen ; Reutter, Heiko |
| Link: | |
| Zeitschrift: | European Journal of Human Genetics, Jg. 24 (2016-07-20), S. 1715-1723 |
| Veröffentlichung: | Springer Science and Business Media LLC, 2016 |
| Medientyp: | unknown |
| ISSN: | 1476-5438 (print) ; 1018-4813 (print) |
| DOI: | 10.1038/ejhg.2016.86 |
| Schlagwort: |
|
| Sonstiges: |
|