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Article

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

The ocular surface - 1 Jan 2020

Lagali Neil, Wowra Bogumil, Fries Fabian Norbert, Latta Lorenz, Moslemani Kayed, Utheim Tor Paaske, Wylegala Edward, Seitz Berthold, Käsmann-Kellner Barbara

Abstract excerpt

PURPOSE: To investigate corneal phenotype in aniridia-associated keratopathy (AAK) including its earliest manifestations, in relation to PAX6 mutational status. METHODS: 46 subjects (92 eyes) with congenital aniridia from a German registry were examined using slit lamp biomicroscopy, anterior segment optical coherence tomography, contact esthesiometry and in vivo confocal microscopy. Cytogenetic analysis was...

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Identifiers

PMID: 31734509
DOI: 10.1016/j.jtos.2019.11.002

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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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