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Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Archivos de la Sociedad Espanola de Oftalmologia - 1 Nov 2021

Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo M A, Ayuso C, Cortón M

Abstract excerpt

Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on the genetic features of this autosomal dominant pathology, which is caused by the haploinsufficiency of the PAX6 gene. Mutations causing premature stop codons are the...

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PMID: 34836588
DOI: 10.1016/j.oftale.2021.02.002

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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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