Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE.
Hinson JT, et al. Among authors: siem g.
N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262.
N Engl J Med. 2007.
PMID: 17314340
Free article.