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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
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.
Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
Cavole TR, Perrone E, Lucena de Castro FSC, Alvarez Perez AB, Waitzberg AFL, Cernach MCSP.
Cavole TR, et al.
Am J Med Genet A. 2020 Jun;182(6):1473-1476. doi: 10.1002/ajmg.a.61559. Epub 2020 Mar 20.
Am J Med Genet A. 2020.
PMID: 32196970
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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.
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Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
Cavole TR, Perrone E, de Faria Soares MF, Dias da Silva MR, Maeda SS, Lazaretti-Castro M, Alvarez Perez AB.
Cavole TR, et al.
Am J Med Genet A. 2020 Dec;182(12):3029-3034. doi: 10.1002/ajmg.a.61896. Epub 2020 Oct 3.
Am J Med Genet A. 2020.
PMID: 33010201
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