Article
Ten novel mutations found in Aniridia.
Human mutation - 1 Jan 1998
Wolf M T, Lorenz B, Winterpacht A, Drechsler M, Schumacher V, Royer-Pokora B, Blankenagel A, Zabel B, Wildhardt G
Abstract excerpt
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance bu...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Aniridia
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA-Binding Proteins
- Eye Proteins
- Female
- Homeodomain Proteins
- Humans
- Infant
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- PAX6 Transcription Factor