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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
Institution:1. Department of Ophthalmology, Flinders University, Adelaide, Australia;2. SA Pathology, Adelaide, Australia;3. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia;4. Department of Ophthalmology, University of Melbourne, Melbourne, Australia;5. Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia;6. Geelong Eye Centre, Geelong, Australia;7. Department of Ophthalmology, Children’s Hospital at Westmead, Sydney, Australia;8. Discipline of Ophthalmology, University of Sydney, Sydney, Australia;9. Department of Ophthalmology, Macquarie University, Sydney, Australia;10. Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia;11. Department of Paediatrics, University of Melbourne, Melbourne, Australia;12. Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia;1. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;2. Department of Ophthalmology, Assaf-Harofeh Medical Center, Zerifin, Israel;3. Medical Management, Chaim Sheba Medical Center, Tel Hashomer, Israel;4. Medical Corps, Israeli Defense Forces, Israel;5. The Faculty of Medicine, The Hebrew University, Jerusalem, Israel;6. Department of Medicine and the Dr. Pinchas Bornstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel Hashomer, Israel;7. The Matlow’s Ophthalmo-genetics Laboratory, Assaf-Harofeh Medical Center, Zerifin, Israel;8. The Goldschleger Eye Institute, Sheba Medical Center, Tel-Hashomer, Israel;1. Department of Ophthalmology, University of California, San Francisco, San Francisco, California;2. Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California;3. Department of Pathology, University of California, San Francisco, San Francisco, California;4. Cancer Genetics and Prevention Program, University of California, San Francisco, San Francisco, California;5. Division of Hematology-Oncology, Department of Pediatrics, University of California, San Francisco, San Francisco, California;6. Computational Biology and Informatics, University of California, San Francisco, San Francisco, California;7. Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California;8. Clinical Cancer Genomics Laboratory, University of California, San Francisco, San Francisco, California;9. Department of Dermatology, University of California, San Francisco, San Francisco, California;10. Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom;1. Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada;2. Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, BC Children’s Hospital, BC Children’s Hospital Research Institute, Vancouver, Canada;1. Department of Ophthalmology, University of Colorado School of Medicine, Aurora, Colorado;2. Department of Radiology, Children''s Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado;3. Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado
Abstract:
Keywords:ARS"}  {"#name":"keyword"  "$":{"id":"kwrd0015"}  "$$":[{"#name":"text"  "_":"Axenfeld-Rieger syndrome  ASD"}  {"#name":"keyword"  "$":{"id":"kwrd0025"}  "$$":[{"#name":"text"  "_":"anterior segment dysgenesis  CADD"}  {"#name":"keyword"  "$":{"id":"kwrd0035"}  "$$":[{"#name":"text"  "_":"combined annotation dependent depletion  IOP"}  {"#name":"keyword"  "$":{"id":"kwrd0045"}  "$$":[{"#name":"text"  "_":"intraocular pressure
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