Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
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DOI: 10.3892/mmr.2018.9469
Abstract: Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile-onset glaucoma and foveal and optic nerve hypoplasia. Mutations in… read more here.
Keywords: aniridia cataract; aniridia; classic congenital; congenital aniridia ... See more keywords