A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family
<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 pseudogli...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Press of International Journal of Ophthalmology (IJO PRESS)
2013-12-01
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Series: | International Journal of Ophthalmology |
Subjects: | |
Online Access: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874509/ |