Aniridia

Causes

What gene change causes Aniridia?

Known causes of aniridia are either mutations and deletions in the PAX6 gene, or deletions in the regions of the gene that controls PAX6. One commonly finds the terms “mutations,” “changes” and “pathogenic variations” used interchangeably.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/aniridia/causes/17289 • DATE UPDATED: 2016-06-24

References

http://ghr.nlm.nih.gov/condition/aniridia#synonyms

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