POLR1A Variants Underlie Phenotypic Heterogeneity in Craniofacial, Neural, and Cardiac Anomalies
The American Journal of Human Genetics（2023）
关键词
RNA Polymerase I,craniofacial anomalies,limb defects,ribosomal RNA,neural crest cells,acrofacial dysostosis,congenital heart defect,epilepsy,developmental delay,ribosomopathies
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