aniridia การใช้

• Phenotypic expression of aniridia with PAX6 gene mutation.
• Pannus may also develop in diseases of the corneal stem cells, such as aniridia.
• While aniridia is rarely absent in WAGR syndrome, cases have been reported without it.
• It is characterized by aniridia, ectopia lentis, abnormal upper incisors and intellectual disability.
• PAX6 gene analysis can also be helpful to distinguish between autosomal dominant aniridia and Gillespie syndrome.
• Another developmental gene mutation causes a complete loss of the iris, a condition known as aniridia.
• Aniridia is a heterozygous disorder, meaning that only one of the two chromosome 11 copies is affected.
• She was born wiith the rare genetic condition aniridia, resulting in low vision which deteriorated as a teenager.
• In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present.
• Defects in the PAX6 gene cause aniridia-like ocular defects in mice ( as well as " Drosophila " ).
• In 2001, two cases of homozygous aniridia patients were reported; the fetuses died prior to birth and had severe brain damage.
• For instance, Swiss researchers have found that a fruitfly gene mutant dubbed " eyeless, " which results in an insect without eyes, is very similar to a human gene defect called aniridia, which causes a fetus to have no eyes.