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Bilateral aniridia and congenital ureteral valve: Role of genetic testing
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 associated wit...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7196450/ https://ncbi.nlm.nih.gov/pubmed/32056389 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1183 |
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