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

Authors

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 Lajoie
Melanie A Knight
Kenneth H Fischbeck
Andrew B Singleton
Carlos R Ferreira, George Washington University
Zheng Wang
Li Yan
James Y Garbern
Pelin O Simsek-Kiper
Hirofumi Ohashi
Pamela G Robey
Alan Boyde
Naomichi Matsumoto
Noriko Miyake
Jürgen Spranger
Raphael Schiffmann
Adeline Vanderver
Gen Nishimura
Maria Rita Dos Santos Passos-Bueno
Cas Simons
Kinya Ishikawa
Shiro Ikegawa

Document Type

Journal Article

Publication Date

3-29-2019

Journal

American journal of human genetics

DOI

10.1016/j.ajhg.2019.03.004

Comments

Epub ahead of print

APA Citation

Guo, L., Bertola, D., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G., Franco, J., Honjo, R., Kim, C., Musso, C., Timmons, M., Pizzino, A., Taft, R., Lajoie, B., Knight, M., Fischbeck, K., Singleton, A., Ferreira, C., Wang, Z., Yan, L., Garbern, J., Simsek-Kiper, P., Ohashi, H., Robey, P., Boyde, A., Matsumoto, N., Miyake, N., Spranger, J., Schiffmann, R., Vanderver, A., Nishimura, G., Passos-Bueno, M., Simons, C., Ishikawa, K., & Ikegawa, S. (2019). Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.. American journal of human genetics, (). http://dx.doi.org/10.1016/j.ajhg.2019.03.004

Peer Reviewed

1