Article
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Scientific reports - 14 Mar 2023
Wu Teng-Hui, Peng Jing, Yang Li, Chen Yan-Hui, Lu Xiu-Lan, Huang Jiao-Tian, You Jie-Yu, Ou-Yang Wen-Xian, Sun Yue-Yu, Xue Yi-Nan, Mao Xiao, Yan Hui-Ming, Ren Rong-Na, Xie Jing, Chen Zhi-Heng, Zhang Victor-Wei, Lyu Gui-Zhen, He Fang
Abstract excerpt
Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged < 18 years) who underwent dual genomic sequencing were enrolled in this retrospective multicentre study. We evaluated the...
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