Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
与 IFIH1 杂合功能获得性突变相关的异常皮肤特征:Aicardi-Goutières 综合征和 Singleton-Merten 综合征的重叠
期刊:British Journal of Dermatology
影响因子:9.6
doi:10.1111/bjd.14073
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