Article
The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.
Molecular vision - 1 Sept 2006
Hansen Lars, Yao Wenliang, Eiberg Hans, Funding Mikkel, Riise Ruth, Kjaer Klaus Wilbrandt, Hejtmancik James Fielding, Rosenberg Thomas
Abstract excerpt
PURPOSE: "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant tr...
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