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
[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].
Yin B et al.
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2019
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
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Schaefer E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
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