WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Author:

Vodopiutz Julia1,Seidl Rainer1,Prayer Daniela2,Khan M. Imran3,Mayr Johannes A.4,Streubel Berthold5,Steiß Jens-Oliver6,Hahn Andreas7,Csaicsich Dagmar1,Castro Christel89,Assoum Mirna89,Müller Thomas3,Wieczorek Dagmar10,Mancini Grazia M. S.11,Sadowski Carolin E.1213,Lévy Nicolas8914,Mégarbané André1516,Godbole Koumudi17,Schanze Denny18,Hildebrandt Friedhelm12,Delague Valérie89,Janecke Andreas R.319,Zenker Martin1820

Affiliation:

1. Department of Pediatrics and Adolescent Medicine; Medical University of Vienna; Austria

2. Division of Neuroradiology and Musculoskeletal Radiology; Medical University of Vienna; Austria

3. Department of Pediatrics I; Medical University of Innsbruck; Innsbruck Austria

4. Department of Pediatrics; Paracelsus Medical University; Salzburg Austria

5. Department of Obstetrics and Feto-Maternal Medicine; Medical University of Vienna; Austria

6. Department of Pediatrics; Justus-Liebig-University; Gießen Germany

7. Department of Child Neurology; Justus-Liebig-University; Gießen Germany

8. Inserm; UMR_S 910, 13385 Marseille France

9. Aix Marseille Université; GMGF Marseille France

10. Institute of Human Genetics; University of Essen; Germany

11. Department of Clinical Genetics; Erasmus University Medical Center; Rotterdam The Netherlands

12. Harvard Medical School; Boston Children's Hospital; Boston Massachusetts

13. Department of Gynecology and Obstetrics; University Hospital Carl Gustav Carus; Technische Universität Dresden; Germany

14. Département de Génétique Médicale; Hôpital d'Enfants de la Timone, AP-HM; Marseille France

15. Université Saint Joseph; Campus des Sciences Médicales; Unité de génétique médicale; Lebanon

16. Institut Jérôme Lejeune; Paris France

17. Deenanath Mangeshkar Hospital & Research Center; Erandawane; Pune India

18. Institute of Human Genetics; University Hospital; Magdeburg Germany

19. Division of Human Genetics; Medical University of Innsbruck; Innsbruck Austria

20. Institute of Human Genetics; University of Erlangen; Erlangen Germany

Funder

Association Francaise Contre les Myopathies

Austrian society of Pediatrics

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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