Associated Papers
Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.
Jiang Y et al.
World Journal of Pediatrics : Wjp, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Torraco A et al.
Clinical Genetics, 2022
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Baertling F et al.
Human Mutation, 2017
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