Associated Papers
IDH3A-related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant.
Mavridou EP et al.
Ophthalmic Genetics, 2025
Unraveling the IDH3A: Expanding the Genotypic Spectrum of Macular Pseudocoloboma.
Bjeloš M et al.
International Journal of Molecular Sciences, 2025
Mutant IDH in Gliomas: Role in Cancer and Treatment Options.
Solomou G et al.
Cancers, 2023
Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.
Saneto RP
Journal of Translational Genetics and Genomics, 2020
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.
Findlay AS et al.
Disease Models & Mechanisms, 2018
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Pierrache LHM et al.
Ophthalmology, 2017
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.
Fattal-Valevski A et al.
Neurogenetics, 2017
Select a paper to view details