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Article

Clinical and molecular aspects of aniridia.

Clinical genetics - 1 May 2010

Kokotas H, Petersen M B

Abstract excerpt

Aniridia is a severe, congenital ocular malformation inherited in an autosomal-dominant fashion with high penetrance and variable expression. Eye morphogenesis in humans involves a molecular genetic cascade in which a number of developmental genes interact in a highly organized process during the embryonic period to produce functional ocular structures. Among these genes, paired box gene 6 (PAX6) has an essential...

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Source

Identifiers

PMID: 20132240
DOI: 10.1111/j.1399-0004.2010.01372.x

Genes

PAX6

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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