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Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment
Author(s) -
Chonglin Chen,
Zhirong Wang,
Limei Sun,
Sijian Huang,
Songshan Li,
Aiyuan Zhang,
Xiaoling Luo,
Li Huang,
Xiaoyan Ding
Publication year - 2019
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.19-26619
Subject(s) - genotype , retinal detachment , proband , lrp5 , phenotype , penetrance , genetics , medicine , mutation , biology , ophthalmology , retinal , gene , wnt signaling pathway
The purpose of this study was to investigate the genetic mutation spectrum in Chinese patients with familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment (FEVR-RRD) and to analyze the preliminary genotype-phenotype association.

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