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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Document Type

Article

Author

Hautakangas, M.-R.; Widgren, P.; Korpelainen, P.; Kangas, S.M.; Komulainen, T.; Vieira, P.; Rahikkala, E.; Kokkonen, H.; Hinttala, R.; Uusimaa, J.; Tuominen, H.; Pylkäs, K.; Miinalainen, I.; Nadaf, J.; Majewski, J.

Source

In: Clinical Genetics. (Clinical Genetics, December 2023, 104(6):686-693)

Subject

Language

English

ISSN

13990004
00099163

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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