Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism |
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| Authors: | James A. Poulter,Musallam Al-Araimi,Ivan Conte,Maria M. van Genderen,Eamonn Sheridan,Ian M. Carr,David A. Parry,Mike Shires,Sabrina Carrella,John Bradbury,Kamron Khan,Phillis Lakeman,Panagiotis I. Sergouniotis,Andrew R. Webster,Anthony T. Moore,Bishwanath Pal,Moin D. Mohamed,Anandula Venkataramana,Vedam Ramprasad,Rohit Shetty,Murugan Saktivel,Govindasamy Kumaramanickavel,Alex Tan,David A. Mackey,Alex W. Hewitt,Sandro Banfi,Manir Ali,Chris F. Inglehearn,Carmel Toomes |
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| Affiliation: | 1 Leeds Institute of Molecular Medicine, University of Leeds, Leeds, West Yorkshire LS9 7TF, UK;2 Telethon Institute of Genetics and Medicine, Naples 80131, Italy;3 Bartiméus, Institute for the Visually Impaired, Zeist 3700 BA, the Netherlands;4 Department of Clinical Genetics, St. James’s University Hospital, Leeds, West Yorkshire LS9 7TF, UK;5 Department of Ophthalmology, Bradford Royal Infirmary, Bradford, West Yorkshire BD9 6RJ, UK;6 Department of Clinical Genetics, VU University Medical Center, Amsterdam NL-1081 HV, the Netherlands;7 Division of Inherited Eye Disease, Institute of Ophthalmology, University College London, London EC1V 9EL, UK;8 Moorfields Eye Hospital, London EC1V 2PD, UK;9 Department of Ophthalmology, St. Thomas’ Hospital, London SE1 9RT, UK;10 Department of Ocular Genetics, Narayana Nethralaya, Bangalore, Karnataka 560099, India;11 SciGenom Labs, Cochin, Kerala 682037, India;12 Centre for Ophthalmology and Visual Science, University of Western Australia, Crawley, Perth WA 6009, Australia;13 Medical Genetics, Department of Biochemistry, Biophysics, and General Pathology, Second University of Naples, Naples 80138, Italy |
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