Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Perez, Y, et al. “Isolated Foveal Hypoplasia With Secondary Nystagmus and Low Vision Is Associated With a Homozygous SLC38A8 Mutation”. Eur J Hum Genet, vol. 22, no. 5, Apr. 2014, pp. 703-6.