A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family

Article, Other literature type English OPEN
Zhang, Xin-Yu ; Jiang, Wei-Ying ; Chen, Lu-Ming ; Chen, Su-Qin (2013)
  • Publisher: International Journal of Ophthalmology Press
  • Journal: International Journal of Ophthalmology (issn: 2222-3959, eissn: 2227-4898)
  • Related identifiers: pmc: PMC3874509, doi: 10.3980/j.issn.2222-3959.2013.06.01
  • Subject: 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... View more
Share - Bookmark