Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
一例携带新型C12orf65致病变异的Leigh综合征患者：病例报告及文献综述
期刊:Genetics and Molecular Biology
影响因子:1.3
doi:10.1590/1678-4685-GMB-2018-0271
Perrone, Eduardo; Cavole, Thiago R; Oliveira, Manuella G; Virmond, Luiza do A; Silva, Marina de França B; Soares, Maria de Fatima F; Iglesias, Simone Brasil de O; Falconi, Ariane; Silva, Juliana S; Nakano, Viviane; Milanezi, Maria Fernanda; Mendes, Carmen Silvia C; Curiati, Marco Antonio; Micheletti, Cecília
