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Article

Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2008

Sharan Sapna, Mirzayans Farideh, Footz Tim, Walter Michael, Levin Alex V

Abstract excerpt

BACKGROUND: PAX6 gene mutations have been observed in aniridia and other anterior segment abnormalities. We report a novel PAX6 genotype and phenotype with an autosomal-dominant mode of inheritance in two unrelated pedigrees. METHODS: Two unrelated pedigrees were identified: one involving four generations; the other involving three generations. Full ocular examination was performed on all available members. Total...

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Source

Identifiers

PMID: 18440259
DOI: 10.1016/j.jaapos.2007.11.021

Genes

PAX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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