Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2024
38348603 (PubMed )
Supplement: MGG3-12-e2274-s001.pdf
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Sun L et al.
Frontiers in Neurology, 2023
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.
Wu S et al.
Bmc Pediatrics, 2019
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