| 1 | MDBS3, PRPH |
| Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln | |
| Khan AO. | |
| Ophthalmic Genet. Feb;40(1):60-63. doi: 10.1080/13816810.2019.1579346. 2019 | |
| 2 | MDBS3, PRPH |
| Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene. | |
| Simonelli F, Testa F, Marini V, Interlandi E, Rossi S, Pognuz DR, Virgili G, Garrč C, Bandello F. | |
| Ophthalmic Res 39(5):255-9. Epub 2007 Sep 12.PMID: 17851265 2007 | |