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RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M. Georgiou M, et al. Among authors: robson ag. Am J Ophthalmol. 2024 Feb;258:119-129. doi: 10.1016/j.ajo.2023.09.025. Epub 2023 Oct 7. Am J Ophthalmol. 2024. PMID: 37806543 Free article.
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: robson ag. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.
206 results