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Homozygous Variant in Translocase of Outer Mitochondrial Membrane 7 Leads to Metabolic Reprogramming and Microcephalic Osteodysplastic Dwarfism with Moyamoya Disease

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, Min-Hsiu Shih,Peng-Chieh Chen

EBIOMEDICINE（2024）

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Key words
TOM complex,iPSC-derived endothelial cells,Cerebrovascular disease,Mitochondrial protein import,Mitochondrial respiration,Glycolysis
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