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
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Imafidon ME et al.
Frontiers in Pediatrics, 2021
Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.
Zheng B et al.
Frontiers in Molecular Biosciences, 2021
34336928 (PubMed )
Supplement: Table2.xlsx › Sheet1
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Vincent M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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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