Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

Poulter JA;Al Araimi M;Conte I;van Genderen MM;Sheridan E;Carr IM;Parry DA;Shires M;Carrella S;Bradbury J;Khan K;Lakeman P;Sergouniotis PI;Webster AR;Moore AT;Pal B;Mohamed MD;Venkataramana A;Ramprasad V;Shetty R;Saktivel M;Kumaramanickavel G;Tan A;Mackey DA;Hewitt AW;BANFI, Sandro;Ali M;Inglehearn CF;Toomes C.

2013