New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Xie YA, Lee W, Cai C, Gambin T, Noupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 1;23(21):5774-80.