Article
<i>PAX6</i>3′ deletion in a family with aniridia
10 Oct 2011
Abstract excerpt
BACKGROUND: Aniridia is a congenital panocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or be a part of multiple ocular anomalies such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, absence of macular reflex or ectopia lentis. In the majority of cases the disease is caused by mutation in the PAX6 gene. MATERIAL AND METHODS: A Polish family with aniridia was...
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