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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-03-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-019-0782-2 |