Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

Nishitha R. Pillai, Noura S. AlDhaheri, Rajarshi Ghosh, Jaehyung Lim, Haley Streff, Anuranjita Nayak, Brett H. Graham, Neil A. Hanchard, Sarah H. Elsea, Fernando Scaglia

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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Medicine & Life Sciences