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

• मुख्य लेखकों: Qi Fan (लेखक), Dan Li (लेखक), Lei Cai (लेखक), Xiaodi Qiu (लेखक), Zhennan Zhao (लेखक), Jihong Wu (लेखक), Jin Yang (लेखक), Yi Lu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...