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Article

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.

Indian journal of ophthalmology - 1 Feb 2018

Palayil Isham, Priya S G, Sivan N V Sarath, Madhivanan Nivean, Venkatachalam Panneer Selvam, Jagadeesan Madhavan

Abstract excerpt

PURPOSE: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. METHODS: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation...

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Identifiers

PMID: 29380764
DOI: 10.4103/ijo.IJO_311_17
PMCID: PMC5819101

Genes

PAX6

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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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