Associated Papers
Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel POLR1D Variant.
Wang X et al.
Prenatal Diagnosis, 2026
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
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Dauwerse JG et al.
Nature Genetics, 2011
Select a paper to view details