| 1 | RBP4, RDCCAS |
| RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations. | |
| Kessel L, Bertelsen M, Grønskov K. | |
| Ophthalmic Genet. Dec;43(6):876-881. doi: 10.1080/13816810.2022.2141789. Epub 2022 Oct 31. 2022 | |
| 2 | RBP4, RDCCAS |
| Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. | |
| Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. | |
| PLoS One. 7(11):e50205. doi: 10.1371/journal.pone.0050205. Epub 2012 Nov 26. 2012 | |