Singleton-Merten Syndrome: a rare autoimmune disorder caused by a specific IFIH1 mutation

Por Buers, I, Nitschke, Y, Hennekam, RC, MacDougall, M, Lu, C, Mamaeva, O, Rice, GI, Erlandsen, H, Kehl, HG, Thiele, H, Nürnberg, P, Höhne, W, Crow, YJ, Feigenbaum, A, Rutsch, F
Publicado no Mol Cell Pediatr (2015)

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Por Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S.A., Jagadeesh, S., Kayserili, H., Keng, W.T., Lev, D., Prada, C.E., Sampson, J.R., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J.M., Verheij, J.B., Vikkula, M., Hennekam, R.C.
Publicado em 2013