Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation inCEP290-Reference-Cited by-同舟云学术

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation inCEP290

Published:2018-09-04 Issue:11 Volume:59 Page:4384
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Valkenburg Dyon¹²,van Cauwenbergh Caroline³⁴,Lorenz Birgit⁵,van Genderen Mies M.⁶,Bertelsen Mette⁷⁸,Pott Jan-Willem R.⁹,Coppieters Frauke⁴,de Zaeytijd Julie³,Thiadens Alberta A. H. J.¹⁰,Klaver Caroline C. W.¹¹⁰¹¹,Kroes Hester Y.¹²,van Schooneveld Mary J.¹³,Preising Markus⁵,Hoyng Carel B.¹²,Leroy Bart P.³⁴¹⁴,van den Born L. Ingeborgh¹⁵,Collin Rob W. J.²¹⁶

Affiliation:

1. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands

2. Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Cognitive Neuroscience Department, Nijmegen, The Netherlands

3. Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium

4. Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium

5. Department of Ophthalmology, Giessen University Medical Center, Giessen, Germany

6. Bartiméus Institute for the Visually Impaired, Zeist and Doorn, The Netherlands

7. Department of Ophthalmology, Righospitalet, Glostrup, Denmark

8. Department of Clinical Genetics, Righospitalet, Copenhagen, Denmark

9. Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

10. Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands

11. Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands

12. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

13. Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands

14. Division of Ophthalmology & Center for Cellular & Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States

15. The Rotterdam Eye Hospital and Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands

16. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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