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
Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.
Yang YD et al.
Molecular Syndromology, 2022
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.
Li X et al.
Acta Oto-laryngologica, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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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