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 S, Ali M, Inglehearn CF, Toomes C

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

Am J Hum Genet 93:1143-50 (2013)
DOI:10.1016/j.ajhg.2013.11.002