Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

Author:

Hull Sarah1,Owen Nicholas2,Islam Farrah3,Tracey-White Dhani2,Plagnol Vincent4,Holder Graham E.1,Michaelides Michel1,Carss Keren5,Raymond F. Lucy6,Rozet Jean-Michel7,Ramsden Simon C.8,Black Graeme C. M.9,Perrault Isabelle7,Sarkar Ajoy10,Moosajee Mariya1,Webster Andrew R.1,Arno Gavin1,Moore Anthony T.11

Affiliation:

1. University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom

2. University College London Institute of Ophthalmology, London, United Kingdom

3. Moorfields Eye Hospital, London, United Kingdom 3Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan

4. University College London Genetics Institute, London, United Kingdom

5. Department of Haematology, University of Cambridge, Cambridge, United Kingdom 6NIHR BioResource—Rare Diseases, Department of Haematology, University of Cambridge, Cambridge, United Kingdom

6. NIHR BioResource—Rare Diseases, Department of Haematology, University of Cambridge, Cambridge, United Kingdom 7Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom

7. Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Paris Descartes-Sorbonne University, Imagine Institut, Paris, France

8. Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, United Kingdom

9. Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, United Kingdom 10Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, United Kingdom

10. Department of Clinical Genetics, Nottingham City Hospital, Nottingham, United Kingdom

11. University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 12Ophthalmology, University of California, San Francisco, California, United States

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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