Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
线粒体外膜 7 号转位酶的纯合变异导致代谢重编程和伴有烟雾病的小头畸形骨发育不良侏儒症
期刊:EBioMedicine
影响因子:9.7
doi:10.1016/j.ebiom.2024.105476
Chia-Yi Li, Li-Wen Chen, Meng-Che Tsai, Yen-Yin Chou, Pei-Xuan Lin, Yu-Ming Chang, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Hui-An Chen, Ni-Chung Lee, Pen-Hua Su, Tzung-Chien Hsieh, Hannah Klinkhammer, Yi-Chieh Wang, Yi-Ting Huang, Peter M Krawitz, Sheng-Hsiang Lin, Lynn L H Huang, Po-Min Chiang, M
