Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Authors: van Dijk, Fleur S., Semler, Oliver, Etich, Julia, Köhler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R., Waisfisz, Quinten, Flores, Carmen-Lisset, Nevado, Julian, Harsevoort, Arjan J., Janus, Guus J.M., Franken, Anton A.M., van der Sar, Astrid M., Meijers-Heijboer, Hanne, Heath, Karen E., Lapunzina, Pablo, Nikkels, Peter G.J., Santen, Gijs W.E., Nüchel, Julian, Plomann, Markus, Wagener, Raimund, Rehberg, Mirko, Hoyer-Kuhn, Heike, Eekhoff, Elisabeth M.W., Pals, Gerard, Mörgelin, Matthias, Newstead, Simon, Wilson, Brian T., Ruiz-Perez, Victor L., Maugeri, Alessandra, Netzer, Christian, Zaucke, Frank, Micha, Dimitra

Source: American journal of human genetics. 107(5):989-999

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111074790.0x000001&indx=1&recIds=ETOCvdc_100111074790.0x000001

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Authors: Scheres, Luuk J.J., van Dijk, Fleur S., Harsevoort, Arjan J., van Dijk, Atty T.H., Dommisse, Anne Marieke, Janus, Guus J.M., Franken, Anton A.M.

Source: In Bone Reports June 2018 8:168-172