Article
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
Journal of medical genetics - 1 Oct 1998
Cunliffe H E, McNoe L A, Ward T A, Devriendt K, Brunner H G, Eccles M R
Abstract excerpt
The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription facto...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Coloboma
- DNA
- DNA Mutational Analysis
- DNA-Binding Proteins
- Exons
- Female
- Heterozygote
- Humans
- Karyotyping
- Male
- Middle Aged
- PAX2 Transcription Factor
- Phenotype