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The spectrum of genetic mutations in patients with asymptomatic mild familial exudative vitreoretinopathy

  • Published:2020-03 Issue: Volume:192 Page:107941
  • ISSN:0014-4835
  • Container-title:Experimental Eye Research
  • language:en
  • Short-container-title:Experimental Eye Research

Author:

Chen Chonglin,Sun Limei,Li Songshan,Huang Li,Zhang Ting,Wang Zhirong,Yu Bilin,Ding Xiaoyan

Funder

Fundamental Research Funds of State Key Laboratory of Ophthalmology

Sun Yat-sen University

Science and Technology Program Guangzhou

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference30 articles.

1. Novel insights into the phenotypical spectrum of KIF11-associated retinopathy, including a new form of retinal ciliopathy;Birtel;Investig. Ophthalmol. Vis. Sci.,2017

2. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature;Collin;Proc. Natl. Acad. Sci. U.S.A.,2013

3. Familial exudative vitreoretinopathy;Criswick;Am. J. Ophthalmol.,1969

4. Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene;Drenser;Arch. Ophthalmol.,2009

5. Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy;Fei;Mol. Vis.,2014
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