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

Nynke Oosterhof, IJ Chang, EG Karimiani, Laura Kuil, DM Jensen, R Daza, E Young, L Astle, Herma Zondervan - van der Linde, GM Shivaram, Jeroen Demmers, CS Latimer, CD Keene, E Loter, R Maroofian, Tjakko van Ham, RF Hevner, JT Bennett

Research output: Contribution to journalArticleAcademicpeer-review

174 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)936-947
Number of pages12
JournalAmerican Journal of Human Genetics
Volume104
Issue number5
DOIs
Publication statusPublished - 2019

Research programs

  • EMC MGC-02-21-01

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