Article
A novel duplication in the PAX6 gene in a North Indian family with aniridia.
International ophthalmology - 1 Dec 2014
Goswami Sandeep, Gupta Viney, Srivastava Arpna, Sihota Ramanjit, Malik Manzoor Ahmad, Kaur Jasbir
Abstract excerpt
Mutations in paired box gene 6 (PAX6) are the major cause of aniridia that may be associated with several other developmental anomalies of the eye, including microcornea in rare cases. Therefore, the purpose of this study was to identify the underlying genetic cause in a two-generation North Indian family diagnosed with aniridia. All the participants enrolled in the study, including the aniridia family and 20...
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