Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Author:

Taylor Rachel L.1,Arno Gavin2,Poulter James A.3,Khan Kamron N.4,Morarji Jiten5,Hull Sarah6,Pontikos Nikolas7,Rueda Martin Antonio8,Smith Katherine R.8,Ali Manir3,Toomes Carmel3,McKibbin Martin4,Clayton-Smith Jill1,Grunewald Stephanie9,Michaelides Michel6,Moore Anthony T.10,Hardcastle Alison J.6,Inglehearn Chris F.3,Webster Andrew R.6,Black Graeme C.1,

Affiliation:

1. Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary’s Hospital, Manchester, England

2. UCL Institute of Ophthalmology, University College London, London, England

3. Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England

4. Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, England 5Department of Ophthalmology, St. James’s University Hospital, Leeds, England

5. Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, England

6. UCL Institute of Ophthalmology, University College London, London, England 7Moorfields Eye Hospital, London, England

7. UCL Genetics Institute, University College London, London, England

8. Genomics England, Queen Mary University of London, London, England

9. Metabolic Unit, Great Ormond Street Hospital, London, England11Institute for Child Health, University College London, London, England

10. UCL Institute of Ophthalmology, University College London, London, England 12Department of Ophthalmology, University of California, San Francisco, Medical School, San Francisco

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

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