Germline mutation in POLR2A : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

HGG advances

Adam W Hansen, Payal Arora, Michael M Khayat, …, James R Lupski, Craig D Kaplan, Richard A Gibbs

• DOI: 10.1016/j.xhgg.2020.100014
• PMID: 33665635
• PMCID: PMC7928427