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)

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi–Goutières and Singleton–Merten syndromes

Por Bursztejn, A.-C., Briggs, T.A., del Toro Duany, Y., Anderson, B.H., O’Sullivan, J., Williams, S.G., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G.I., Hur, S., Crow, Y.J.
Publicado no Br J Dermatol (2015)