Bilateral aniridia and congenital ureteral valve: Role of genetic testing
Abstract Background Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associ...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1183 |