Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc3.xlsx › S2
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Sun L et al.
Frontiers in Neurology, 2023
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H et al.
Journal of Human Genetics, 2021
Select a paper to view details