Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.
PAICS 缺陷的临床谱系不断扩大：对两例同胞病例的综合分析
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01752-2
Weng Wen-Chin, Skopova Vaclava, Baresova Veronika, Liu Yao-Lin, Hsueh Hsueh-Wen, Chien Yin-Hsiu, Hwu Wuh-Liang, Souckova Olga, Hnizda Ales, Kmoch Stanislav, Lee Ni-Chung, Zikanova Marie
