A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review

BackgroundLeukodystrophies are hereditary white matter diseases characterized by genetic polymorphisms and considerable phenotypic variability. They can be classified into myelin and non-myelin malformations. These diseases are rare, affecting 1 out of 250,000–500,000 individuals and can manifest at...

全面介绍

书目详细资料
Main Authors: Lei Sun, Weihong Lin, Hongmei Meng, Wuqiong Zhang, Shuai Hou
格式: 文件
语言:English
出版: Frontiers Media S.A. 2023-10-01
丛编:Frontiers in Neurology
主题:
在线阅读:https://www.frontiersin.org/articles/10.3389/fneur.2023.1269237/full