SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (vol 49, pg 238, 2017)
Year: 2017
Type: article
Authors: Shaw, ND, Brand, H, Kupchinsky, ZA, Bengani, H, Plummer, L, Jones, TI, Erdin, S, Williamson, KA, Rainger, J, Stortchevoi, A, Samocha, K, Currall, BB, Dunican, DS, Collins, RL, Willer, JR, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, CM, Chiang, C, An, Y, Ansari, M, Rainger, JK, Joss, S, Smith, JC, Lippincott, MF, Singh, SS, Patel, N, Jing, JW, Law, JR, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, LA, Brasseur, B, Cesaretti, C, Garcia-Ortiz, JE, Buitrago, TP, Silva, OP, Hoffman, JD, Muhlbauer, W, Ruprecht, KW, Loeys, BL, Shino, M, Kaindl, AM, Cho, C-H, Morton, CC, Meehan, RR, Van Heyningen, V, Liao, EC, Balasubramanian, R, Hall, JE, Seminara, SB, Macarthur, D, Moore, SA, Yoshiura, K-I, Gusella, JF, Marsh, JA, Graham, JM, Lin, AE, Katsanis, N, Jones, PL, Crowley, WF, Davis, EE, FitzPatrick, DR, Talkowski, ME
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W2798100492