Article
Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy.
Genes - 27 Jun 2021
Huang Li, Lu Jinglin, Zhang Linyan, Zhang Zhaotian, Sun Limei, Li Songshan, Zhang Ting, Chen Limei, Cao Liming, Ding Xiaoyan
Abstract excerpt
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by abnormalities in the retinal vasculature. The FZD4 gene is associated with FEVR, but the prevalence and impact of FZD4 copy number variation (CNV) on FEVR patients are unknown. The aim of this study was to better understand the genetic features and clinical manifestations of patients with FZD4 CNVs. A total of 651 FEVR families...
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