A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome

por Chu, Chia-Mei, Yu, Hsin-Hui, Kao, Tsai-Ling, Chen, Yi-Hsuan, Lu, Hsuan-Hsuan, Wu, En-Ting, Yang, Yun-Li, Lin, Chin-Hsien, Lin, Shin-Yu, Tsai, Meng-Ju Melody, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Chen, Wen-Pin, Lee, Ni-Chung, Tseng, Chi-Kang
Publicado 2022