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

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...

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Bibliographic Details
Main Authors:	Lei Sun, Weihong Lin, Hongmei Meng, Wuqiong Zhang, Shuai Hou
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-10-01
Series:	Frontiers in Neurology
Subjects:	POLR3A hypomyelinating leukodystrophy-7 4H syndrome diagnosis demyelinating diseases
Online Access:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1269237/full

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