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    • Bi-Allelic Csf1R Mutations Cause Skeletal Dysplasia Of Dysosteosclerosis-Pyle Disease Spectrum And Degenerative Encephalopathy With Brain Malformation 

      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 (2019)
      Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause ...