Article
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
Clinical & experimental ophthalmology - 1 Dec 2017
Pérez-Solórzano Sofía, Chacón-Camacho Oscar F, Astiazarán Mirena C, Ledesma-Gil Gerardo, Zenteno Juan Carlos
Abstract excerpt
IMPORTANCE: The importance of the study was to describe the clinical characteristics and mutational analysis of Mexican patients with aniridia. BACKGROUND: Aniridia is a panocular hereditary eye disease caused by mutations in the PAX6 transcription factor. Mutation detection rate is highly variable ranging from 30% to 90% in different populations. Very few studies have been published about the PAX6 mutational...
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