Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.
Jurkute N, Brennenstuhl H, Kustermann M, Van Haute L, Mutti CD, Bugiardini E, Handa T, Shimura M, Petzold A, Acheson J, Robson AG, Macken WL, Hanna MG, Pitceathly RDS, Merve A, Kotzaeridou U, Kölker S, Freilinger M, Erdler M, Bittner RE, Mayr JA, Okazaki Y, Murayama K, Prokisch H, Webster AR, Minczuk M, Arno G, Pemp B, Hoffmann GF, Schmidt WM, Yu-Wai-Man P.
Jurkute N, et al. Among authors: mutti cd.
Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):17. doi: 10.1167/iovs.66.6.17.
Invest Ophthalmol Vis Sci. 2025.
PMID: 40465263
Free PMC article.