Biallelic variants in COX4I1...

American Journal of Medical Genetics Part A 2019 / 07

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

Pillai, Nishitha R., AlDhaheri, Noura S., Ghosh, Rajarshi, Lim, Jaehyung, Streff, Haley, Nayak, Anuranjita, Graham, Brett H., Hanchard, Neil A., Elsea, Sarah H., Scaglia, Fernando
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Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61288
Date:
July, 2019
File:
PDF, 954 KB
english, 2019
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