Associated Papers
The human induced pluripotent stem cell line CTGUi-002A was generated from a Perrault syndrome patient.
Wu SL et al.
Stem Cell Research, 2026
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.
Cao Y et al.
Orphanet Journal of Rare Diseases, 2025
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes].
Dai LF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
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