Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability

Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T. (2017) Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. Journal of Medical Genetics. http://dx.doi.org/10.1136/jmedgenet-2017-104632