CNGB1 ‐related rod‐cone dystrophy: A mutation review and update

Author:

Nassisi Marco1234ORCID,Smirnov Vasily M.156ORCID,Solis Hernandez Cyntia1,Mohand‐Saïd Saddek2,Condroyer Christel1,Antonio Aline1,Kühlewein Laura78,Kempf Melanie7,Kohl Susanne8,Wissinger Bernd8,Nasser Fadi7,Ragi Sara D.9,Wang Nan‐Kai91011,Sparrow Janet R.9,Greenstein Vivienne C.9,Michalakis Stylianos12ORCID,Mahroo Omar A.1314,Ba‐Abbad Rola1314,Michaelides Michel1314,Webster Andrew R.1314,Degli Esposti Simona1314,Saffren Brooke15,Capasso Jenina16,Levin Alex17,Hauswirth William W.18,Dhaenens Claire‐Marie19,Defoort‐Dhellemmes Sabine5,Tsang Stephen H.9202122,Zrenner Eberhart7,Sahel Jose‐Alain12324,Petersen‐Jones Simon M.25,Zeitz Christina1ORCID,Audo Isabelle1226ORCID

Affiliation:

1. Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique Institut de la Vision Paris France

2. Centre Hospitalier National d'Ophtalmologie des Quinze‐Vingts, INSERM‐DGOS CIC1423 Paris France

3. Department of Clinical Sciences and Community Health University of Milan Milan Italy

4. Ophthalmological Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

5. Exploration de la vision et Neuro‐Ophthalmologie, CHU de Lille Lille France

6. Faculté de Médecine Université de Lille Lille France

7. University Eye Hospital, Centre for Ophthalmology University of Tübingen Tübingen Germany

8. Institute for Ophthalmic Research, Centre for Ophthalmology University of Tübingen Tübingen Germany

9. Department of Ophthalmology Columbia University, New York New York USA

10. College of Medicine Chang Gung University Taoyuan Taiwan

11. Department of Ophthalmology, Chang Gung Memorial Hospital Linkou Medical Center Taoyuan Taiwan

12. Department of Ophthalmology, University Hospital LMU Munich Munich Germany

13. Moorfields Eye Hospital London UK

14. UCL Institute of Ophthalmology, University College London London UK

15. Philadelphia College of Osteopathic Medicine Philadelphia Pennsylvania USA

16. Wills Eye Hospital Philadelphia Pennsylvania USA

17. Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Pediatric Genetics, Golisano Children's Hospital University of Rochester Rochester New York USA

18. Department of Ophthalmology University of Florida Gainesville Florida USA

19. Univ. Lille, Inserm, CHU Lille, U1172‐LilNCog‐Lille Neuroscience & Cognition Lille France

20. Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory New York New York USA

21. Department of Pathology and Cell Biology Columbia University New York New York USA

22. Stem Cell Initiative (CSCI), Institute of Human Nutrition, Vagelos College of Physicians and Surgeons New York New York USA

23. Department of Ophthalmology The University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USA

24. Fondation Ophtalmologique Adolphe de Rothschild Paris France

25. Department of Small Animal Clinical Sciences Michigan State University East Lansing Michigan USA

26. University College London Institute of Ophthalmology London UK

Funder

Agence Nationale de la Recherche

National Eye Institute

NIHR Bristol Biomedical Research Centre

Foundation Fighting Blindness

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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