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
Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
Lu M et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022
Structure of the human RNA polymerase I elongation complex.
Zhao D et al.
Cell Discovery, 2021
Structure of human RNA polymerase III.
Ramsay EP et al.
Nature Communications, 2020
33335104 (PubMed )
Supplement: 41467_2020_20262_MOESM4_ESM.xlsx › Sheet1
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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