Article
A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.
Scientific reports - 2 May 2014
Zhuang Jianfu, Chen Xiaole, Tan Zhihua, Zhu Yihua, Zhao Kanxing, Yang Juhua
Abstract excerpt
Aniridia is a congenital panocular disorder caused by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with aniridia and other ocular abnormalities, we recruited the family members who underwent ophthalmic examination. Two patients in this family, the proband and his affected son, both have bilateral aniridia, foveal...
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