Ontology highlight
ABSTRACT:
SUBMITTER: Deng M
PROVIDER: S-EPMC7389075 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Deng Mei M Lin Wei-Xia WX Guo Li L Zhang Zhan-Hui ZH Song Yuan-Zong YZ
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20160601 6
The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was extracted from peripheral blood samples of the patient and her parents. Targeted Exome Sequencing was performed to explore the genetic causes. Sanger sequencing was carried out to confirm the detecte ...[more]