Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism

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 ShettyMurugan Saktivel, Govindasamy Kumaramanickavel, Alex Tan, David A. Mackey, Alex W. Hewitt, Sandro Banfi, Manir Ali, Chris F. Inglehearn*, Carmel Toomes

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology