Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D et al.
American Journal of Human Genetics, 2021
[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].
Tamura A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Tétreault M et al.
American Journal of Human Genetics, 2011
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