Article

Detection of A Novel PAX6 Mutation In A Chinese Family With Multiple Ocular Abnormalities

2021-05-24

Abstract excerpt

<h4>Background: </h4> Aniridia is a congenital, panocular disease which could affect cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function mutations were the most common cause of aniridia. Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities. Distinct mutations at a given site in PAX6 lead to distinctive phenotypic findings. This study aimed...

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Literature Corpus work: 0d1912f6-f1a0-56cf-b6e7-e682b94f886a
DOI: 10.21203/rs.3.rs-32697/v5

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