Novel PAX6 mutation reported in an aniridia patient.
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ABSTRACT: An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
SUBMITTER: Winegarner A
PROVIDER: S-EPMC5719187 | biostudies-other | 2017
REPOSITORIES: biostudies-other
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