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...
| Hlavní autoři: | , , , , |
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| Médium: | Článek |
| Jazyk: | English |
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Frontiers Media S.A.
2023-10-01
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| Edice: | Frontiers in Neurology |
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| On-line přístup: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1269237/full |