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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants by Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann
Published 2025-03-01Get full text
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Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder by 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
Published 2025-01-01Get full text
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