SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A. Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B. Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy KamminDiane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F. Lippincott, Sylvia S. Singh, Nirav Patel, Jenny W. Jing, Jennifer R. Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E. Garciá-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D. Hoffman, Wolfgang Mühlbauer, Klaus W. Ruprecht, Bart L. Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica Van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel MacArthur, Steven A. Moore, Koh Ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David R. Fitzpatrick, Michael E. Talkowski

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