Video Upload Options

References

1. Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Bosma arhiniamicrophthalmia syndrome: Clinical report and review of the literature. Am J MedGenet A. 2016 May;170A(5):1302-7. doi: 10.1002/ajmg.a.37572.
2. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC,Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS,Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM,Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J,Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhiniamicrophthalmia syndrome and abrogate nasal development. Nat Genet. 2017Feb;49(2):249-255. doi: 10.1038/ng.3765.
3. Jansz N, Chen K, Murphy JM, Blewitt ME. The Epigenetic Regulator SMCHD1 inDevelopment and Disease. Trends Genet. 2017 Apr;33(4):233-243. doi:10.1016/j.tig.2017.01.007.
4. 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, García-Ortiz JE, BuitragoTP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM,Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, HallJE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, GrahamJM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR,Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can alsocause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017Feb;49(2):238-248. doi: 10.1038/ng.3743.2017 May 26;49(6):969.