Phenotypic and Genetic Analysis of Familial Congenital Aniridia Caused by a Run-on Mutation in the PAX6 Gene
This study characterizes a Chinese Han pedigree with autosomal dominant congenital aniridia caused by a novel heterozygous PAX6 frameshift mutation (c.1268 A > T), demonstrating complete genotype-phenotype cosegregation and highlighting the necessity of lifelong ophthalmic surveillance to manage progressive pan-ocular complications.
Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer
Drowning in papers in your field?
Get daily digests of the most novel papers matching your research keywords — with technical summaries, in your language.