Article
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).
Genomics - 1 Jan 1994
Glaser T, Ton C C, Mueller R, Petzl-Erler M L, Oliver C, Nevin N C, Housman D E, Maas R L
Abstract excerpt
The PAX6 gene is expressed at high levels in the developing eye and cerebellum and is mutated in patients with autosomal dominant aniridia. We have tested the role of PAX6 mutations in three families with Gillespie syndrome, a rare autosomal recessive condition consisting of partial aniridia, cer...
Topics
- Alleles
- Aniridia
- Base Sequence
- Brazil
- Cerebellar Ataxia
- DNA Mutational Analysis
- DNA-Binding Proteins
- Eye Proteins
- Female
- Genes
- Homeodomain Proteins
- Humans
- Intellectual Disability
- Male
- Molecular Sequence Data
- Northern Ireland
- PAX6 Transcription Factor
- Paired Box Transcription Factors