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

作者：Long Guo, Débora Romeo Bertola, Asako Takanohashi, Asuka Saito, Yuko Segawa, Takanori Yokota, Satoru Ishibashi, Yoichiro Nishida, Guilherme Lopes Yamamoto, José Francisco da Silva Franco, Rachel Sayuri Honjo, Chong Ae Kim, Camila Manso Musso, Margaret Timmons, Amy Pizzino, Ryan J. Taft, Bryan R. Lajoie, Melanie A. Knight, Kenneth H. Fischbeck, Andrew Singleton, Carlos R. Ferreira, Zheng Wang, Yan Li, James Garbern, Pelin Özlem Şimşek‐Kiper, Hirofumi Ohashi, Pamela Gehron Robey, A. Boyde, Naomichi Matsumoto, Noriko Miyake, Jürgen W. Spranger, Raphael Schiffmann, Adeline Vanderver, Gen Nishimura, Maria Rita Passos‐Bueno, Cas Simons, Kinya Ishikawa, Shiro Ikegawa · 发表于：The American Journal of Human Genetics · 年份：2019 · DOI：10.1016/j.ajhg.2019.03.004 · 被引用次数：137 · 研究领域：MicroRNA in disease regulation、Neuroinflammation and Neurodegeneration Mechanisms、Epigenetics and DNA Methylation