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
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Giampietro PF et al.
American Journal of Medical Genetics. Part A, 2015
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