Associated Papers
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene-Long-Term Follow-Up of a Sibling.
Ha DJ et al.
Frontiers in Genetics, 2022
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Guehlouz K et al.
Scientific Data, 2021
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M et al.
Brain Communications, 2021
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Gibson S et al.
American Journal of Medical Genetics. Part A, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Blackburn PR et al.
Annals of Clinical and Translational Neurology, 2020
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