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

Investigative ophthalmology & visual science - 1 May 2017

Rao Feng-Qin, Cai Xue-Bi, Cheng Fei-Fei, Cheng Wan, Fang Xiao-Long, Li Na, Huang Xiu-Feng, Li Li-Hong, Jin Zi-Bing

Abstract excerpt

Purpose: 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...

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Source

Identifiers

PMID: 28494495
DOI: 10.1167/iovs.16-21324

Genes

FZD4
KIF11
LRP5
NDP
TSPAN12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.PMID 28494495Read ↗

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