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Autosomal Dominant HK1-Related Neurodevelopmental Disorder With Visual Defects and Brain Anomalies (NEDVIBA): An Emerging Mitochondrial Disorder

Autosomal Dominant HK1-Related Neurodevelopmental Disorder With Visual Defects and Brain Anomalies (NEDVIBA): An Emerging Mitochondrial Disorder

Authors: Ng BG, Eklund EA, Rosenfeld JA, Elias AF, Abu-El-Haija A, Bris C, Barth M, Chae JH, Choi M, Dubbs HA, Fratter C, Foulds N, Gamble C, Gavrilova RH, Haven J, Hoffman TL, Hunter JV, Larson A, Lotze TE, Magoulas P, Magness EC, Bootin DM, Marsh ED, Nesbitt V, Pastore MT, Poulton J, Rahman S, Scaglia F, Murali C, Posey J, Rotenberg J, Schmalz B, Shinde DN, Powis Z, Sukenik-Halevy R, Truxal KV, Uster T, Machado Bressan Wilke MV, Klee E, Woo H, Younkin D, Zhao J, Granadillo J, Lalani S, Chitayat D, Chung WK, Freeze HH, Okur V

Citation: Genet Med Open. 2025 Mar 20;3:103425. doi: 10.1016/j.gimo.2025.103425.

Specialties:  Genetics, Neurology

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