Autosomal Dominant HK1-related Neurodevelopmental Disorder with Visual Defects and Brain Anomalies (NEDVIBA): an Emerging Mitochondrial Disorder
Bobby G Ng,Erik A Eklund, Jill A Rosenfeld,Abdallah F Elias, Aya Abu-El-Haija,Celine Bris,Magalie Barth,Jong-Hee Chae,Murim Choi, Holly A Dubbs,Carl Fratter,Nicola Foulds,Candace Gamble,Ralitza H Gavrilova, Jaclyn Haven, Trevor L Hoffman,Jill V Hunter,Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C Magness, Debra M Bootin, Eric D Marsh, Victoria Nesbitt, Matthew T Pastore, Joanna Poulton,Shamima Rahman,Fernando Scaglia, Chaya Murali, Jennifer Posey,Joshua Rotenberg, Betsy Schmalz,Deepali N Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee,Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani,David Chitayat, Wendy K Chung, Hudson H Freeze, Volkan Okur Genetics in medicine open（2025）
Key words
Hexokinase,HK1,Leigh syndrome spectrum,Mitochondrial disorder,NEDVIBA
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