A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome oleh Chia-Mei Chu, Hsin-Hui Yu, Tsai-Ling Kao, Yi-Hsuan Chen, Hsuan-Hsuan Lu, En-Ting Wu, Yun-Li Yang, Chin-Hsien Lin, Shin-Yu Lin, Meng-Ju Melody Tsai, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Pin Chen, Ni-Chung Lee, Chi-Kang Tseng