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Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism by Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Elaine Zhou, Isabella Herman, Adrian Temnycky, Philip Whalen, Gene Elliot, Ellen W. Leschek, Robin Wijngaard, Ronald van Beek, Annemarie de Vreugd, Maaike C. de Vries, Clara D.M. van Karnebeek, Machteld M. Oud, Thomas C. Markello, Kevin M. Barnes, Hadil Alrohaif, Hudson H. Freeze, William A. Gahl, May Christine V. Malicdan, Jennifer E. Posey, James R. Lupski, Jeffrey Baron
Published 2025-01-01Get 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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