Article
Analysis of genotype-phenotype correlations in PAX6-associated aniridia.
Journal of medical genetics - 1 Apr 2021
Vasilyeva Tatyana A, Marakhonov Andrey V, Voskresenskaya Anna A, Kadyshev Vitaly V, Käsmann-Kellner Barbara, Sukhanova Natella V, Katargina Lyudmila A, Kutsev Sergey I, Zinchenko Rena A
Abstract excerpt
BackgroundAniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations encompassing the coding and/or regulatory regions of the PAX6 gene in a heterozygous state. Patients with aniridia display several ocular anomalies including foveal hypoplasia, cataract, keratopathy, and glaucoma, which can vary in severity and...
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