Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Ching-López A et al.
International Journal of Molecular Sciences, 2021
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I et al.
Molecular Genetics & Genomic Medicine, 2019
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
Ghesh L et al.
American Journal of Medical Genetics. Part A, 2019
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I et al.
Nature Communications, 2015
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