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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
Galvão de Oliveira M, Tengan C, Micheletti C, Ramos de Macedo P, Soares Pinho Cernach MC, Cavole TR, de França Basto M, Filho JS, Virmond LA, Milanezi F, Nakano V, Falconi A, Perrone E. Galvão de Oliveira M, et al. Among authors: cavole tr. Eur J Med Genet. 2021 May;64(5):104195. doi: 10.1016/j.ejmg.2021.104195. Epub 2021 Mar 18. Eur J Med Genet. 2021. PMID: 33746038 Review.
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E, Cavole TR, Oliveira MG, Virmond LDA, Silva MFB, Soares MFF, Iglesias SBO, Falconi A, Silva JS, Nakano V, Milanezi MF, Mendes CSC, Curiati MA, Micheletti C. Perrone E, et al. Among authors: cavole tr. Genet Mol Biol. 2020 May 29;43(2):e20180271. doi: 10.1590/1678-4685-GMB-2018-0271. eCollection 2020. Genet Mol Biol. 2020. PMID: 32478789 Free PMC article.