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Article

Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.

International journal of molecular medicine - 1 Feb 2018

Lin Ying, Gao Hongbin, Chen Chuan, Zhu Yi, Li Tao, Liu Bingqian, Ma Chenghong, Jiang Hongye, Li Yonghao, Huang Ying, Wu Qingxiu, Li Haichun, Liang Xiaoling, Jin Chenjin, Ye Jianhua, Huang Xinhua, Lu Lin

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary retinal disorder characterized by the premature arrest of vascularization in the peripheral retina. The aim of the present study was to characterize the clinical presentations of a Chinese family affected by bilateral severe FEVR, and to identify the underlying genetic variations. One family that presented with bilateral FEVR was recruited for this...

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Source

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Identifiers

PMID: 29207047
DOI: 10.3892/ijmm.2017.3308
PMCID: PMC5752179

Genes

LRP5
ABCA4

Variants

rs41494349

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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