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

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...

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Bibliographic Details
Main Authors: Xin-Yu Zhang, Wei-Ying Jiang, Lu-Ming Chen, Su-Qin Chen
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2013-12-01
Series:International Journal of Ophthalmology
Subjects:
Norrie disease
pseudoglioma
mutation
Chinese
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874509/

Internet

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874509/

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