Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus
Büyükyılmaz G et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
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
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S1.xlsx › HGMD_database
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