Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy | Zendy

Feng-Qin Rao | Zendy; XueBi Cai | Zendy; Feifei Cheng | Zendy; Cheng Wan | Zendy; Xiaolong Fang | Zendy; Na Li | Zendy; XiuFeng Huang | Zendy; Lihong Li | Zendy; ZiBing Jin | Zendy

Open Access

Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy

Author(s) -

Feng-Qin Rao,

XueBi Cai,

Feifei Cheng,

Cheng Wan,

Xiaolong Fang,

Na Li,

XiuFeng Huang,

Lihong Li,

ZiBing Jin

Publication year - 2017

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-21324

Subject(s) - genetics , medicine , biology

Familial exudative vitreoretinopathy (FEVR) is a severe hereditary retinal disorder characterized by defects in retinal vascular development. To date, six genes have been reported to be responsible for this disease, including LRP5, FZD4, TSPAN12, NDP, ZNF408, and KIF11. The purpose of our study was to investigate the genetic defects in Chinese patients with FEVR through mutational analyses of 31 pedigrees.

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