A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene
Author:
Affiliation:
1. Save Sight Institute, Sydney, NSW, Australia
2. Hunter Genetics, Waratah, NSW, Australia
3. The University of Newcastle, University Dr, Callaghan, NSW, Australia
Funder
NHMRC CRE
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1509353
Reference12 articles.
1. Dominant optic atrophy
2. Genetic and phenotypic variability of optic neuropathies
3. Genetically determined optic neuropathies
4. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant
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1. Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy;JIMD Reports;2023-12-15
2. Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene—Long-Term Follow-Up of a Sibling;Frontiers in Genetics;2022-03-11
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