A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract

Abstract Background Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract. Methods The proband and her parents underwent full op...

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Bibliographic Details
Main Authors: Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang, Yi Lu
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Medical Genetics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12881-019-0782-2