A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities

A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities

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 ophthalm...

Full description

Bibliographic Details
Main Authors: Zhuang, Jianfu, Chen, Xiaole, Tan, Zhihua, Zhu, Yihua, Zhao, Kanxing, Yang, Juhua
Format: Online
Language:English
Published: Nature Publishing Group 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007070/

Similar Items

Similar Items