Article
Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.
Eye (London, England) - 1 Dec 2011
Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, Li Y
Abstract excerpt
PURPOSE: Aniridia (AN) is a rare congenital panocular disorder caused by the mutations of the paired box homeotic gene 6(PAX6) gene. The PAX6gene is also involved in other anterior segment malformations including Peters anomaly. We studied the PAX6gene mutations in a cohort of affected individuals with different clinical phenotype including AN, coloboma of iris and choroid, or anterior segment malformations....
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