Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

Author:

Beck Bodo B.1,Phillips Jennifer B.2,Bartram Malte P.3,Wegner Jeremy2,Thoenes Michaela1,Pannes Andrea1,Sampson Josephina4,Heller Raoul1,Göbel Heike5,Koerber Friederike6,Neugebauer Antje7,Hedergott Andrea7,Nürnberg Gudrun8,Nürnberg Peter89,Thiele Holger8,Altmüller Janine18,Toliat Mohammad R.8,Staubach Simon1,Boycott Kym M.10,Valente Enza Maria1112,Janecke Andreas R.13,Eisenberger Tobias14,Bergmann Carsten1415,Tebbe Lars16,Wang Yang17,Wu Yundong1718,Fry Andrew M.4,Westerfield Monte2,Wolfrum Uwe1619,Bolz Hanno J.114

Affiliation:

1. Institute of Human Genetics; University Hospital of Cologne; Cologne Germany

2. Institute of Neuroscience; University of Oregon; Eugene Oregon

3. Department II of Internal Medicine and Center for Molecular Medicine Cologne; University Hospital of Cologne; Cologne Germany

4. Department of Biochemistry; University of Leicester; Leicester United Kingdom

5. Department of Pathology; University Hospital of Cologne; Cologne Germany

6. Department of Radiology; University Hospital of Cologne; Cologne Germany

7. Department of Ophthalmology; University Hospital of Cologne; Cologne Germany

8. Cologne Center for Genomics (CCG) and Centre for Molecular Medicine Cologne (CMMC); University of Cologne; Cologne Germany

9. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD); University of Cologne; Cologne Germany

10. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Canada

11. Mendel Laboratory; IRCCS Casa Sollievo della Sofferenza Institute; San Giovanni Rotondo Italy

12. Department of Medicine and Surgery; University of Salerno; Salerno Italy

13. Department of Pediatrics I, and Division of Human Genetics; Innsbruck Medical University; Innsbruck Austria

14. Center for Human Genetics; Bioscientia; Ingelheim Germany

15. Department of Medicine, Renal Division; University of Freiburg Medical Center; Freiburg Germany

16. Department of Cell and Matrix Biology, Institute of Zoology; Johannes Gutenberg University of Mainz; Mainz Germany

17. Lab of Computational Chemistry and Drug Design, Laboratory of Chemical Genomics; Peking University Shenzhen Graduate School; Shenzhen P.R. China

18. College of Chemistry; Peking University; Beijing P.R. China

19. Focus Program Translational Neurosciences (FTN); Johannes Gutenberg University of Mainz; Mainz Germany

Funder

Imhoff-Stiftung

Marie Louise Geissler-Stiftung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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