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
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Peter VG et al.
Ophthalmic Genetics, 2019
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