This is a report on the nature of the mutations in the PAX6 gene in twenty patients with aniridia. Five of the twenty patients had sporadic aniridia with deletions in chromosome 11p13. Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the o
✦ LIBER ✦
Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene
✍ Scribed by De Becker, Inge; Walter, Michael; Noël, Léon-Paul
- Book ID
- 125819336
- Publisher
- Canadian Ophthalmological Society
- Year
- 2004
- Tongue
- English
- Weight
- 815 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0008-4182
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Aniridia is an autosomal dominant panocular disorder, characterized by hypoplasia of the iris. It is caused by mutations in the PAX6 gene. This gene encodes a 422-amino acid transcription factor. This protein includes paired and homeo domains, which bind DNA and a proline-serine and threonine-rich P
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