Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
双等位基因 CSF1R 突变导致骨硬化症-派尔病谱系骨骼发育不良和伴有脑畸形的退行性脑病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.03.004
Guo, Long; Bertola, Débora Romeo; Takanohashi, Asako; Saito, Asuka; Segawa, Yuko; Yokota, Takanori; Ishibashi, Satoru; Nishida, Yoichiro; Yamamoto, Guilherme Lopes; Franco, José Francisco da Silva; Honjo, Rachel Sayuri; Kim, Chong Ae; Musso, Camila Manso; Timmons, Margaret; Pizzino, Amy; Taft, Ryan J; Lajoie, Bryan; Knight, Melanie A; Fischbeck, Kenneth H; Singleton, Andrew B; Ferreira, Carlos R; Wang, Zheng; Yan, Li; Garbern, James Y; Simsek-Kiper, Pelin O; Ohashi, Hirofumi; Robey, Pamela G; Boyde, Alan; Matsumoto, Naomichi; Miyake, Noriko; Spranger, Jürgen; Schiffmann, Raphael; Vanderver, Adeline; Nishimura, Gen; Passos-Bueno, Maria Rita Dos Santos; Simons, Cas; Ishikawa, Kinya; Ikegawa, Shiro
