Bilateral aniridia and congenital ureteral valve: Role of genetic testing

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...

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Bibliographic Details
Main Authors: Lisa B. E. Shields, Dennis S. Peppas, Eran Rosenberg
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
aniridia
genetics
pediatric urology
ureteral valve
wilms tumor
Online Access:https://doi.org/10.1002/mgg3.1183

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