MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

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Date: July 11, 2023
Authors:
Christopher C.Y. Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D Weisfeld-Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga-Jauregui, Yuri A. Zarate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G Kant, Youngha Lee, Gisele E Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G Mehaffey, Pierre-Marie Martin, Benjamin Apple, Francisca Millan, Oliver Puk, Mariette J.V. Hoffer, Lindsay B Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Pei, Farah R Zahir, Mullin Yu, William T Gibson, Ann R Seman, Marcie Steeves, Jill R Murrell, Sabine Luettgen, Elizabeth Francisco, Tim M. Strom, Louise Amlie-Wolf, Angela M Kaindl, William G. Wilson, Sara Halbach, Lina Basel-Salmon, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine Zackai, Jan M Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R Reid, Koenraad Devriendt, Jong-Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T Shieh, Murim Choi, Darrel Waggoner, Karen W Gripp, Michael J Parker, Joan Stoler, Stanislas Lyonnet, Valérie Cormier-Daire, David Viskochil, Trevor L Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T Gordon
Journal: Brain : a journal of neurology
Journal Volume: 143