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

BACKGROUND: Leukodystrophies 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...

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Detalles Bibliográficos
Autores principales: Sun, Lei, Lin, Weihong, Meng, Hongmei, Zhang, Wuqiong, Hou, Shuai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641775/
https://www.ncbi.nlm.nih.gov/pubmed/37965164
http://dx.doi.org/10.3389/fneur.2023.1269237

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641775/
https://www.ncbi.nlm.nih.gov/pubmed/37965164
http://dx.doi.org/10.3389/fneur.2023.1269237

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