Article
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
Clinical genetics - 1 Dec 2017
Vasilyeva T A, Voskresenskaya A A, Käsmann-Kellner B, Khlebnikova O V, Pozdeyeva N A, Bayazutdinova G M, Kutsev S I, Ginter E K, Semina E V, Marakhonov A V, Zinchenko R A
Abstract excerpt
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with...
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