Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
KITLG 双等位基因变异会导致一系列不同的色素减退和感音神经性听力损失。
期刊:Journal of the European Academy of Dermatology and Venereology
影响因子:8
doi:10.1111/jdv.18207
Vona, B; Schwartzbaum, D A; Rodriguez, A A; Lewis, S S; Toosi, M B; Radhakrishnan, P; Bozan, N; Akın, R; Doosti, M; Manju, R; Duman, D; Sineni, C J; Nampoothiri, S; Karimiani, E G; Houlden, H; Bademci, G; Tekin, M; Girisha, K M; Maroofian, R; Douzgou, S