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De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations
Authors:Gabriel C. Dworschak  Markus Draaken  Carlo Marcelis  Ivo de Blaauw  Rolph Pfundt  Iris A.L.M. van Rooij  Enrika Bartels  Alina Hilger  Ekkehart Jenetzky  Eberhard Schmiedeke  Sabine Grasshoff‐Derr  Dominik Schmidt  Stefanie Märzheuser  Stuart Hosie  Sandra Weih  Stefan Holland‐Cunz  Markus Palta  Johannes Leonhardt  Mattias Schäfer  Christina Kujath  Anke Rißmann  Markus M. Nöthen  Nadine Zwink  Michael Ludwig  Heiko Reutter
Affiliation:1. Institute of Human Genetics, University of Bonn, Bonn, Germany;2. Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany;3. Department of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;4. Department of Pediatric Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;5. Department for Health Evidence, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;6. Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany;7. Department of Child and Adolescent Psychiatry and Psychotherapy, Johannes‐Gutenberg University, Mainz, Germany;8. Department of Pediatric Surgery and Urology, Center for Child and Adolescent Health, Hospital Bremen‐Mitte, Bremen, Germany;9. Department of Pediatric Surgery, University Hospital Würzburg, Würzburg, Germany;10. Department of Pediatric Surgery, Campus Virchow Clinic, Charite University Hospital Berlin, Berlin, Germany;11. Department of Pediatric Surgery, Klinikum Schwabing, Technische Universit?t München, Munich, Germany;12. Department of Pediatric Surgery, University of Heidelberg, Heidelberg, Germany;13. Department of Pediatric Surgery, Evangelisches Krankenhaus Hamm, Hamm, Germany;14. Department of Pediatric Surgery, St. Bernward‐Hospital, Hildesheim, Germany;15. Department of Pediatric Surgery and Urology, Cnopf'sche Kinderklinik, Nürnberg, Germany;16. Department of Pediatric Surgery, University of Greifswald, Greifswald, Germany;17. Malformation Monitoring Centre Saxony‐Anhalt, Otto‐von‐Guericke University, Magdeburg, Germany;18. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany;19. Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany;20. Correspondence to:;21. Dr. med. Heiko Reutter, Institute of Human Genetics and Department of Neonatology, Children's Hospital University of Bonn, Sigmund‐Freud‐Str. 25, D‐53127 Bonn, Germany;22. E‐mail: reutter@uni-bonn.de
Abstract:
Keywords:anorectal malformations  Ephrin‐B2  chromosome 13q deletion  VATER/VACTERL
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