A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family
Article, Other literature type
- Publisher: International Journal of Ophthalmology Press
International Journal of Ophthalmology
(issn: 2222-3959, eissn: 2227-4898)
mutation | Chinese | RE1-994 | pseudoglioma | Ophthalmology | Basic Research | Norrie disease
<b>AIM:</b>To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).<b>METHODS:</b>Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pse...