Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Autor: Oosterhof, Nynke, Chang, Irene J., Karimiani, Ehsan Ghayoor, Kuil, Laura E., Jensen, Dana M., Daza, Ray, Young, Erica, Astle, Lee, van der Linde, Herma C., Shivaram, Giridhar M., Demmers, Jeroen, Latimer, Caitlin S., Keene, C. Dirk, Loter, Emily, Maroofian, Reza, van Ham, Tjakko J., Hevner, Robert F., Bennett, James T.
Zdroj: In The American Journal of Human Genetics 2 May 2019 104(5):936-947
Databáze: ScienceDirect