C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ. C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. Br J Ophthalmol. 2015 Dec;99(12):1725-31.