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

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

doi:10.17615/tdb3-bx52

2017

DOI: 10.17615/tdb3-bx52

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

Natalie D Shaw¹,

Harrison Brand²,

Zachary A. Kupchinsky³

et al.

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

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