A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM, Yu HH, Kao TL, Chen YH, Lu HH, Wu ET, Yang YL, Lin CH, Lin SY, Tsai MM, Chien YH, Hwu WL, Chen WP, Lee NC, Tseng CK.
Chu CM, et al. Among authors: tsai mm.
NPJ Genom Med. 2022 Oct 30;7(1):64. doi: 10.1038/s41525-022-00335-8.
NPJ Genom Med. 2022.
PMID: 36309505
Free PMC article.