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Article

Bilateral aniridia and congenital ureteral valve: Role of genetic testing.

Molecular genetics & genomic medicine - 1 Apr 2020

Shields Lisa B E, Peppas Dennis S, Rosenberg Eran

Abstract excerpt

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 with WAGR syndrome, necessitating an evaluation of the genitourinary anatomy. The WT1 is vital for the development of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32056389
DOI: 10.1002/mgg3.1183
PMCID: PMC7196450

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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