Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Mainzer-Saldino综合征是一种纤毛病,由IFT140基因突变引起。
期刊:Journal of Anatomy
影响因子:1.9
doi:10.1111/j.1469-7580.2011.01431.x
Lee, Shin-Hyo; Ichii, Osamu; Otsuka, Saori; Elewa, Yaser Hosny Ali; Namiki, Yuka; Hashimoto, Yoshiharu; Kon, Yasuhiro; Perrault, I; Saunier, S; Hanein, S; Filhol, E; Bizet, A; Collins, F; Salih, M; Silva, E; Baudouin, V; Oud, M; Shannon, N; Le Merrer, M; Pietrement, C; Beales, P; Arts, H; Munnich, A; Kaplan, J; Antignac, C; Cormier Daire, V; Rozet, JM