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Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype
Authors:Thomas R W Nixon  Philip Alexander  Allan Richards  Annie McNinch  Philip W P Bearcroft  Jan Cobben  Martin P Snead
Institution:1. School of Clinical Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK;2. Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK;3. Department of Pathology, University of Cambridge, Cambridge, UK;4. Department of Radiology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK;5. North West Thames Regional Genetic Services, Northwick Park Hospitals NHS Foundation Trust, London, UK;6. Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands;7. Martin P. Snead, Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK.
Abstract:
Keywords:retina  retinal detachment  sensorineural hearing loss  Stickler  vitreoretinal
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