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Article

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

Investigative ophthalmology & visual science - 1 Mar 2013

Nowak Dorota M, Karolak Justyna A, Kubiak Joanna, Gut Marta, Pitarque Jose A, Molinari Andrea, Bejjani Bassem A, Gajecka Marzena

Abstract excerpt

PURPOSE: Keratoconus (KTCN) is a thinning and anterior protrusion of the cornea that results in altered refractive powers and loss of visual acuity. Despite numerous studies, the reasons for development and progression of KTCN remain unknown. Genetic studies have led to identification of several loci linked with KTCN, including a locus in one multigenerational Ecuadorian family. The purpose of this study was to...

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PMID: 23462747
DOI: 10.1167/iovs.13-11592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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