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Article

Evidence against ZNF469 being causative for keratoconus in Polish patients.

Acta ophthalmologica - 1 May 2016

Karolak Justyna A, Gambin Tomasz, Rydzanicz Malgorzata, Szaflik Jacek P, Polakowski Piotr, Frajdenberg Agata, Mrugacz Malgorzata, Podfigurna-Musielak Monika, Stankiewicz Pawel, Gajecka Marzena

Abstract excerpt

PURPOSE: Keratoconus (KTCN) is a degenerative disorder characterized by stromal thinning and protrusion of the cornea, resulting in severe impairment of visual function. A recent study proposed that rare heterozygous mutations in ZNF469 determine KTCN aetiology. METHODS: To investigate the contribution of ZNF469 to KTCN, we Sanger sequenced ZNF469 in 42 unrelated Polish patients with KTCN and 49 Polish...

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Identifiers

PMID: 26806788
DOI: 10.1111/aos.12968

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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