doi.org/10.1038/ejhg.2014.61, hdl.handle.net/1765/55866
European Journal of Human Genetics
Department of Clinical Genetics

Schepers, D., Doyle, A., Oswald, P., Sparks, D., Myers, L., Willems, P., Mansour, M., Simpson, M. A., Frysira, H., Maat-Kievit, A., Thornton, A., Hoogeboom, J., Mortier, G., Titheradge, H., Brueton, L., Starr, L., Stark, Z., Ockeloen, C., Lourenco, T., … van Laer, L. (2014). The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. European Journal of Human Genetics.https://doi.org/10.1038/ejhg.2014.61