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...

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Detalles Bibliográficos
Autores principales: Cheng, Yizhe, Liu, Xinyu, Sun, Limei, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665509/
https://www.ncbi.nlm.nih.gov/pubmed/38028614
http://dx.doi.org/10.3389/fgene.2023.1278961

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665509/
https://www.ncbi.nlm.nih.gov/pubmed/38028614
http://dx.doi.org/10.3389/fgene.2023.1278961

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