Associated Papers
C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy.
Yang-Seeger D et al.
Ophthalmic Genetics, 2025
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
Li RTH et al.
Investigative Ophthalmology & Visual Science, 2023
Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.
Xu L et al.
The American Journal of Pathology, 2023
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
Kellner U et al.
International Journal of Molecular Sciences, 2021
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