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Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13.

Aniridia.

Author information

  • 1Ophthalmology, Hinchingbrooke Hospital, Cambridgeshire, UK.

Abstract

Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene. This article will review the clinical manifestations, the molecular basis including genotype-phenotype correlations, diagnostic approaches and management of aniridia.

PMID:
22692063
PMCID:
PMC3449076
DOI:
10.1038/ejhg.2012.100
[PubMed - indexed for MEDLINE]
Free PMC Article
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