Associated Papers
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
[Analysis of 6 cases with hepatocerebral mitochondrial DNA depletion syndrome and literature review].
Zhao MX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
Li X et al.
Bmc Medical Genetics, 2019
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