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

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Abstract

To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).

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Author and article information

Journal

Journal ID (iso-abbrev): Int J Ophthalmol

Title: International journal of ophthalmology

ISSN: 2222-3959

ISSN (Print): 2222-3959

Publication date (Electronic): 2013

Volume: 6

Issue: 6

Affiliations

[1 ] Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, Guangdong Province, China.

[2 ] Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China.

Article

Publisher Item ID: ijo-06-06-739

DOI: 10.3980/j.issn.2222-3959.2013.06.01

PMC ID: 3874509

PubMed ID: 24392318

SO-VID: 8122bcdb-ab7f-4f67-9f23-e783e0e789ed

History

Keywords: mutation,pseudoglioma,Chinese,Norrie disease

Data availability:

Keywords: mutation, pseudoglioma, Chinese, Norrie disease

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