Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
EBioMedicine
Authors:
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
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
European journal of human genetics : EJHG
Authors:
Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung-Chien Hsieh, Marie Horackova, Julie Paulsen, Roberto Mendoza Londono, Lucie Dupuis, Megan Dickson, Hellen Lesman, Tracy Lau, David Murphy, Khalid Hama Salih, Bassam M S Al-Musawi, Ruqayah G Y Al-Obaidi, Malgorzata Rydzanicz, Mateus Biela, Mafalda Saraiva Santos, Abdulrahman Aldeeri, Hanna T Gazda, Lynn Pais, Shirlee Shril, Henrik Døllner, Sandip Bartakke, Franco Laccone, Andrea Soltysova, Thomas Kitzler, Neveen A Soliman, Raissa Relator, Michael A Levy, Jennifer Kerkhof, Jessica Rzasa, Henry Houlden, Gabriela V Pilshofer, Tilman Jobst-Schwan, Friedhelm Hildebrandt, Sergio B Sousa, Reza Maroofian, Timothy W Yu, Peter Krawitz, Bekim Sadikovic, Sofia Douzgou Houge