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Article

Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia.

American journal of ophthalmology - 1 May 1998

Gupta S K, De Becker I, Guernsey D L, Neumann P E

Abstract excerpt

PURPOSE: Sporadic cases of aniridia have a 30% risk for the development of Wilms tumor. Current guidelines for sporadic aniridia recommend screening by renal ultrasonography for the presence of tumors every 6 months until age 5 years. Deletions of chromosome 11p13 that affect both PAX6 (aniridia) and WT1 (Wilms tumor) loci are the basis for the association of these two uncommon disorders. We sought to develop a...

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Source

Identifiers

PMID: 9625553
DOI: 10.1016/s0002-9394(98)00015-4

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia.PMID 9625553Read ↗

Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.Semantic proximity Read ↗

[Genetics of congenital aniridia].Semantic proximity Read ↗

Mutation in the PAX6 gene in twenty patients with aniridia.Semantic proximity Read ↗

Assessment of PAX6 alleles in 66 families with aniridia.Semantic proximity Read ↗

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.Semantic proximity Read ↗

Clinical phenotypes and Wilms tumor.Semantic proximity Read ↗

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.Semantic proximity Read ↗

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.Semantic proximity Read ↗

The distal region of 11p13 and associated genetic diseases.Semantic proximity Read ↗

Bilateral aniridia and congenital ureteral valve: Role of genetic testing.Semantic proximity Read ↗

[Molecular genetic study of the PAX6 gene in aniridia patients].Semantic proximity Read ↗

PAX6 mutations: genotype-phenotype correlations.Semantic proximity Read ↗

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