Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy

Purpose: To identify novel mutations in FZD4 and to investigate their pathogenicity in a cohort of Chinese patients with familial exudative vitreoretinopathy (FEVR). Methods: Next-generation sequencing was performed in patients with a clinical diagnosis of FEVR. Wide-field angiography was perform...

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Bibliographic Details
Main Authors: Tian Tian, Xiang Zhang, Qi Zhang, Peiquan Zhao
Format: Article
Language:English
Published: Molecular Vision 2019-02-01
Series:Molecular Vision
Subjects:
Online Access:http://www.molvis.org/molvis/v25/60/