POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience
ObjectivesThis study aimed to investigate the clinical, radiological, and genetic features of POLR3-related leukodystrophy caused by mutations in POLR3A or POLR1C.MethodsFourteen Chinese patients with POLR3-related leukodystrophy were enrolled in this cross-sectional observational study. The clinica...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-03-01
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| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2024.1355484/full |