PPIB mutations cause severe osteogenesis imperfecta.

Autor: van Dijk FS; Department of Clinical Genetics, VU University Medical Centre, De Boelelaan 1117, P.O. box 7057, 1007 MB Amsterdam, The Netherlands., Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G

Publikováno v: American journal of human genetics [Am J Hum Genet] 2009 Oct; Vol. 85 (4), pp. 521-7. Date of Electronic Publication: 2009 Sep 24.