Associated Papers
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.
Ugarteburu O et al.
Mitochondrion, 2026
Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.
Jiang Y et al.
World Journal of Pediatrics : Wjp, 2025
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
Abu-Libdeh B et al.
European Journal of Human Genetics : Ejhg, 2017
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