Brittle Cornea Syndrome
Last Posted: Dec 17, 2017
- Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.
Lucas Sionne E M, et al. Investigative ophthalmology & visual science 2017 12 (14) 6248-6256
- Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.
Vincent Andrea L, et al. Investigative ophthalmology & visual science 2014 9 (9) 5629-35
- Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner Judith, et al. Human molecular genetics 2014 10 (20) 5527-35
- Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
Hoehn René, et al. Human genetics 2012 11 (11) 1783-93
- Brittle cornea syndrome
From NCATS Genetic and Rare Diseases Information Center
- Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
Lu Yi, et al. PLoS genetics 2010 5 (5) e1000947
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