Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Titel:
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Auteur:
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