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

• Päätekijät: Qi Fan (Tekijä), Dan Li (Tekijä), Lei Cai (Tekijä), Xiaodi Qiu (Tekijä), Zhennan Zhao (Tekijä), Jihong Wu (Tekijä), Jin Yang (Tekijä), Yi Lu (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2019-03-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...