Article
Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.
Molecular vision - 18 Feb 2003
Komatireddy Sreelatha, Chakrabarti Subhabrata, Mandal Anil Kumar, Reddy Aramati Bindu Madhava, Sampath Srirangan, Panicker Shirly George, Balasubramanian Dorairajan
Abstract excerpt
PURPOSE: Axenfeld-Rieger anomaly (ARA) is a form of anterior segment dysgenesis of the eye, mainly caused by mutations in the FOXC1 gene. We had earlier reported a novel mutation in the wing region of FOXC1 in an autosomal dominant family. The present study was aimed to identify the spectrum of mutations in the FOXC1 gene in a cohort of Indian ARA patients from different ethnic backgrounds, and to understand its...
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