Article
Aniridia.
European journal of human genetics : EJHG - 1 Oct 2012
Hingorani Melanie, Hanson Isabel, van Heyningen Veronica
Abstract excerpt
Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene. This article will review the clinical manifestations, the molecular basis including...
Topics
- Aniridia
- Eye Proteins
- Genotype
- Homeodomain Proteins
- Humans
- Intellectual Disability
- Mutation
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Phenotype
- Repressor Proteins
- Syndrome
- Urogenital Abnormalities
- WT1 Proteins
- Wilms Tumor