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Article

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.

Yi chuan = Hereditas - 20 Mar 2017

Liu Yu-qing, Zhu Xiong, Li Shu-jin, Yang Ye-ming, Yang Mu, Zhao Pei-quan, Zhu Xian-jun

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease characterized by defects in the development of periphery retinal vessels. However, the clinical phenotypes of FEVR vary widely from asymptomatic to complete blindness. We analyzed patients from three Chinese families and one sporadic patient with FEVR to investigate the clinical features and disease-causing mutations. Ocular phenotypes...

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Source

Identifiers

PMID: 28420620
DOI: 10.16288/j.yczz.16-339

Genes

LRP5
FZD4
NDP
TSPAN12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.PMID 28420620Read ↗

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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.Semantic proximity Read ↗

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Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

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