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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Autor: Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group., Maconachie GDE; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, United Kingdom; Foveal Development Investigators Group., Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea; Foveal Development Investigators Group., Kessel L; Department of Ophthalmology, Rigshospitalet, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Foveal Development Investigators Group., van Genderen MM; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands; Bartiméus Diagnostic Centre for Complex Visual Disorders, Zeist, The Netherlands; Foveal Development Investigators Group., McLean RJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Hisaund M; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Tu Z; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group., Hertle RW; Department of Ophthalmology, The Rebecca D. Considine Research Institute and The Children's Vision Center, Akron Children's Hospital, Akron, Ohio; Department of Surgery, The Northeastern Ohio Medical University, Rootstown, Ohio; Foveal Development Investigators Group., Gronskov K; Department of Clinical Genetics, Rigshospitalet-Kennedy Center, Glostrup, Denmark; Foveal Development Investigators Group., Bai D; Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China; Foveal Development Investigators Group., Wei A; Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China; Foveal Development Investigators Group., Li W; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; Rare Disease Center, National Center for Children's Health; MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, Beijing, China; Foveal Development Investigators Group., Jiao Y; Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China; Foveal Development Investigators Group., Smirnov V; Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; Foveal Development Investigators Group., Choi JH; Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea; Foveal Development Investigators Group., Tobin MD; Department of Health Sciences, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group., Sheth V; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, United Kingdom., Purohit R; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Dawar B; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Girach A; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Strul S; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota; Foveal Development Investigators Group., May L; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota; Foveal Development Investigators Group., Chen FK; Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Crawley, Australia; Foveal Development Investigators Group., Heath Jeffery RC; Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Crawley, Australia; Foveal Development Investigators Group., Aamir A; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Sano R; Retina and Vitreous Sector of Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil; Foveal Development Investigators Group., Jin J; Sidney Kimmel Medical College of Thomas Jefferson University, Nemours Children's Health, Philadelphia, Pennsylvania; Nemours Children's Health, Wilmington, Delaware., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland; Foveal Development Investigators Group., Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, Tübingen, Germany; Foveal Development Investigators Group., Arveiler B; Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France; Foveal Development Investigators Group., Montoliu L; National Centre for Biotechnology (CNB-CSIC) and CIBERER-ISCIII, Madrid, Spain; Foveal Development Investigators Group., Engle EC; Departments of Neurology and Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland; Foveal Development Investigators Group., Proudlock FA; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Nishad G; International Institute of Information Technology, Hyderabad, India., Pani P; International Institute of Information Technology, Hyderabad, India., Varma G; International Institute of Information Technology, Hyderabad, India; Foveal Development Investigators Group., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group; Cooper Neurological Institute, Cooper Medical School of Rowan University, Camden, New Jersey., Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group. Electronic address: mt350@le.ac.uk.

Publikováno v: Ophthalmology [Ophthalmology] 2022 Jun; Vol. 129 (6), pp. 708-718. Date of Electronic Publication: 2022 Feb 11.

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