Associated Papers
From Genes to Disease: Reassessing LOXHD1 and AGBL1's Contribution to Fuchs' Dystrophy.
Tsedilina TR et al.
International Journal of Molecular Sciences, 2025
40244234 (PubMed )
Supplement: ijms-26-03343-s001.zip › Table_S5_variant_validator.xlsx › ____1
Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.
Tsedilina TR et al.
Frontiers in Medicine, 2023
37441688 (PubMed )
Supplement: Table_1.xlsx › LOXHD1_cases
Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.
Liu X et al.
Eye and Vision (london, England), 2021
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Riazuddin SA et al.
American Journal of Human Genetics, 2012
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