A unique ocular novel phenotype with elliptical anterior iris stromal defects associated with mutation in the PAX6 gene
β Scribed by Alex V. Levin; Sapna Sharan; Michael A. Walter; Farideh Mirzayans
- Book ID
- 116589973
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 45 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1528-3933
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π SIMILAR VOLUMES
The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from
## Abstract AxenfeldβRieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio