Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

doi:10.1167/iovs.17-22417

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Article

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

Investigative ophthalmology & visual science - 1 Dec 2017

Lucas Sionne E M, Zhou Tiger, Blackburn Nicholas B, Mills Richard A, Ellis Jonathan, Leo Paul, Souzeau Emmanuelle, Ridge Bronwyn, Charlesworth Jac C, Brown Matthew A, Lindsay Richard, Craig Jamie E, Burdon Kathryn P

Abstract excerpt

Purpose: The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the role of the gene in the autosomal recessive disease Brittle Cornea Syndrome. Coding variants in ZNF469 have been assessed for association with keratoconus in several small studies, with...

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PMID: 29228253
DOI: 10.1167/iovs.17-22417

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