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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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- Author(s): 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; Currall, Benjamin B; 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, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; Singh, Sylvia S; Patel, Nirav; Jing, Jenny W; Law, Jennifer R; Ferraro, Nalton; Verloes, Alain; Rauch, Anita; Steindl, Katharina; Zweier, Markus; Scheer, Ianina; Sato, Daisuke; Okamoto, Nobuhiko; Jacobsen, Christina; Tryggestad, Jeanie; Chernausek, Steven; Schimmenti, Lisa A; Brasseur, Benjamin; Cesaretti, Claudia; García-Ortiz, Jose E; Buitrago, Tatiana Pineda; Silva, Orlando Perez; Hoffman, Jodi D; Mühlbauer, Wolfgang; Ruprecht, Klaus W; Loeys, Bart L; Shino, Masato; Kaindl, Angela M; Cho, Chie-Hee; Morton, Cynthia C; Meehan, Richard R; van Heyningen, Veronica; Liao, Eric C; Balasubramanian, Ravikumar; Hall, Janet E; Seminara, Stephanie B; Macarthur, Daniel; Moore, Steven A; Yoshiura, Koh-ichiro; Gusella, James F; Marsh, Joseph A; Graham, John M, Jr; Lin, Angela E; Katsanis, Nicholas; Jones, Peter L; Crowley, William F, Jr; Davis, Erica E; FitzPatrick, David R; Talkowski, Michael E
- Source:
Nature Genetics. February, 2017, Vol. 49 Issue 2, p238, 11 p.
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