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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome 期刊论文
NATURE GENETICS, 2017, 卷号: 49, 期号: 2, 页码: 238-248
作者:  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;  Curra, 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;  Ana, 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, Main;  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;  Garcia-Ortiz, Jose E.;  Pineda Buitrago, Tatiana;  Perez Silva, Orlando;  Hoffman, Jodi D.;  Muehlbauer, Wolfgang;  Ruprecht, Klaus W.;  Loeys, Bart L.;  Shino, Masato;  Kaind, 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.
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