Associated Papers
Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel POLR1D Variant.
Wang X et al.
Prenatal Diagnosis, 2026
A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.
Zhu H et al.
Bmc Pediatrics, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.
Belkevich AE et al.
Molecular and Cellular Biology, 2023
A clinically-relevant residue of POLR1D is required for Drosophila development.
Palumbo RJ et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Dauwerse JG et al.
Nature Genetics, 2011
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