Article

A new association of PAX6 variation with Juvenile onset open angle glaucoma

2022-07-05

Abstract excerpt

Mutations in the PAX6 gene are generally associated with aniridia. We describe a family with Juvenile onset open angle glaucoma (JOAG), where two siblings were detected to have a pathogenic variant in the PAX6 gene in the absence of aniridia. Whole exome sequencing was performed for the family where the proband and her sibling were detected to have JOAG and Juvenile ocular hypertension respectively. None of the...

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Literature Corpus work: 396bbcf6-c83e-52b4-8688-b704e65e2051
DOI: 10.22541/au.165701725.59716124/v1

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