Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy
Background: Leukoencephalopathy and visual impairment have been linked to loss-of-function mutations in the CLCN2 gene (MIM #600570). However, the ocular features caused by the CLCN2 mutations remain poorly understood and seldom reported. This study aims to present a novel mutation and characterize...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-11-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1278961/full |