A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen

Crespi J, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Ayala-Ramirez R, Zenteno JC. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. Am J Ophthalmol. 2008 Aug;146(2):323-328.