Biallelic NSUN3 variants cause diverse phenotypic spectrum disease: from isolated optic atrophy to severe early-onset mitochondrial disorder - Jurkute, Neringa; Brennenstuhl, Heiko; Kustermann, Monika; Van Haute, Lindsey; Mutti, Christian D.; Bugiardini, Enrico; Handa, Takayuki; Shimura, Masaru; Petzold, Axel; Acheson, James; Robson, Anthony G.; Macken, William L.; et al. (Investigative ophthalmology & visual science, 2025)
Online veröffentlicht: 4. Juni 2025