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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13.
Clin Genet. 2023.
PMID: 37574199
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
Widgren P, Hurme A, Falck A, Keski-Filppula R, Remes AM, Moilanen J, Majamaa K, Kervinen M, Uusimaa J.
Widgren P, et al.
Acta Ophthalmol. 2016 Feb;94(1):83-91. doi: 10.1111/aos.12897. Epub 2015 Oct 8.
Acta Ophthalmol. 2016.
PMID: 26448634
Free article.
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Leber hereditary optic neuropathy mutations and toxic-genetic optic neuropathy - authors' response.
Kervinen M, Widgren P, Saarela V, Uusimaa J, Remes A.
Kervinen M, et al. Among authors: widgren p.
Acta Ophthalmol. 2014 Feb;92(1):e78-9. doi: 10.1111/aos.12089. Epub 2013 Feb 25.
Acta Ophthalmol. 2014.
PMID: 23438023
Free article.
No abstract available.
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