Biallelic variants in RNU12 cause CDAGS syndrome.
Xing C, Kanchwala M, Rios JJ, Hyatt T, Wang RC, Tran A, Dougherty I, Tovar-Garza A, Purnadi C, Kumar MG, Berk D, Shinawi M, Irvine AD, Toledo-Bahena M, Agim NG, Glass DA 2nd.
Xing C, et al. Among authors: agim ng.
Hum Mutat. 2021 Aug;42(8):1042-1052. doi: 10.1002/humu.24239. Epub 2021 Jun 15.
Hum Mutat. 2021.
PMID: 34085356