Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Long Guo(Second Affiliated Hospital of Xi'an Jiaotong University), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Ryan J. Taft(Genetic Alliance), Pelin Özlem Şimşek‐Kiper(Hacettepe University), Cas Simons(Garvan Institute of Medical Research), Adeline Vanderver(Children's Hospital of Philadelphia), Hirofumi Ohashi(Aichi Medical University), Bryan R. Lajoie(University of Massachusetts Chan Medical School), Pamela Gehron Robey(National Institute of Dental and Craniofacial Research), Asako Takanohashi(Children's Hospital of Philadelphia), Satoru Ishibashi(Tokyo Medical and Dental University), Takanori Yokota(Tokyo Medical and Dental University), Guilherme Lopes Yamamoto(Universidade de São Paulo), Maria Rita Passos‐Bueno(Universidade de São Paulo), Gen Nishimura(Musashino University), Yoichiro Nishida(Tokyo Medical and Dental University), Camila Manso Musso(Duke Medical Center), James Garbern(University of Rochester), Carlos R. Ferreira(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Yuko Segawa(Tokyo Medical and Dental University), Débora Romeo Bertola(Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo), Kinya Ishikawa(Tokyo Medical and Dental University), Rachel Sayuri Honjo(Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo), Asuka Saito(Tokyo Medical and Dental University), Kenneth H. Fischbeck(National Institute of Neurological Disorders and Stroke), Naomichi Matsumoto(Yokohama City University), Amy Pizzino(Children's Hospital of Philadelphia), A. Boyde(Queen Mary University of London), Zheng Wang(Chinese Academy of Medical Sciences & Peking Union Medical College), Yan Li, Andrew Singleton(Short and Associates (United States)), Chong Ae Kim(AstraZeneca (United States)), José Francisco da Silva Franco(Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo), Margaret Timmons(National Institute of Neurological Disorders and Stroke), Jürgen W. Spranger, Raphael Schiffmann(Texas Christian University), Melanie A. Knight, Noriko Miyake(National Center for Global Health and Medicine)
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