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-Reference-Cited by-同舟云学术

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

Published:2013-08-16 Issue:12 Volume:161 Page:3035-3041
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dworschak Gabriel C.¹,Draaken Markus¹²,Marcelis Carlo³,de Blaauw Ivo⁴,Pfundt Rolph³,van Rooij Iris A.L.M.⁵,Bartels Enrika¹,Hilger Alina¹,Jenetzky Ekkehart⁶⁷,Schmiedeke Eberhard¹⁸,Grasshoff-Derr Sabine⁹,Schmidt Dominik¹¹⁰,Märzheuser Stefanie¹⁰,Hosie Stuart¹¹,Weih Sandra¹²,Holland-Cunz Stefan¹²,Palta Markus¹³,Leonhardt Johannes¹⁴,Schäfer Mattias¹⁵,Kujath Christina¹⁶,Rißmann Anke¹⁷,Nöthen Markus M.¹²,Zwink Nadine⁶,Ludwig Michael¹⁸,Reutter Heiko¹¹⁹

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 Universität 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

Funder

German Federal Ministry of Education and Research

BONFOR Program of the University of Bonn

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36153/fullpdf

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4. Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development;Dravis;Dev Biol,2004

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