Article
PAX 6 is normal in most cases of Peters' anomaly.
Eye (London, England) - 1 Jan 1998
Churchill A J, Booth A P, Anwar R, Markham A F
Abstract excerpt
Mutations in the PAX 6 gene are known to cause many cases of inherited and sporadic aniridia. Although embryologically similar to aniridia, the cause of Peters' anomaly has received far less attention. Two reports have been published demonstrating mutations in the PAX 6 gene in Peters' anomaly. W...
Topics
- Anterior Eye Segment
- Corneal Opacity
- DNA-Binding Proteins
- Eye Proteins
- Female
- Homeodomain Proteins
- Humans
- Male
- Mutation
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Repressor Proteins