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aniridia

Definition: Partial or complete loss of the iris.

Etiology

- deletion of the PAX6 gene at 11p13

Associations

- WAGR syndrome
- Wilms tumour predisposition (17630404)

References

- van Heyningen V, Hoovers JM, de Kraker J, Crolla JA. Elevated risk of Wilms tumour in aniridia cases with submicroscopic WT1 deletion. J Med Genet. 2007 Jul 14;PMID: 17630404