A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy
Abstract Background Wagner vitreoretinopathy (WVR) is a rare autosomal dominant vitreoretinopathy caused by pathogenic variants in the VCAN gene. The aim of this study was to report a novel splicing variant in VCAN identified in a three‐generation Chinese family initially diagnosed with familial exu...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2023-02-01
|
Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2083 |