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

doi:10.1016/j.ajhg.2019.03.010

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 journal › Article › Academic › peer-review

199 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	936-947
Number of pages	12
Journal	American Journal of Human Genetics
Volume	104
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2019.03.010
Publication status	Published - 2019

Research programs

EMC MGC-02-21-01

Access to Document

10.1016/j.ajhg.2019.03.010

http://hdl.handle.net/1765/116516

Cite this

Oosterhof, N., Chang, IJ., Karimiani, EG., Kuil, L., Jensen, DM., Daza, R., Young, E., Astle, L., Zondervan - van der Linde, H., Shivaram, GM., Demmers, J., Latimer, CS., Keene, CD., Loter, E., Maroofian, R., van Ham, T., Hevner, RF., & Bennett, JT. (2019). Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. American Journal of Human Genetics, 104(5), 936-947. https://doi.org/10.1016/j.ajhg.2019.03.010

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

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doi = "10.1016/j.ajhg.2019.03.010",

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Oosterhof, N, Chang, IJ, Karimiani, EG, Kuil, L, Jensen, DM, Daza, R, Young, E, Astle, L, Zondervan - van der Linde, H, Shivaram, GM, Demmers, J, Latimer, CS, Keene, CD, Loter, E, Maroofian, R, van Ham, T, Hevner, RF & Bennett, JT 2019, 'Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia', American Journal of Human Genetics, vol. 104, no. 5, pp. 936-947. https://doi.org/10.1016/j.ajhg.2019.03.010

TY - JOUR

T1 - Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

AU - Oosterhof, Nynke

AU - Chang, IJ

AU - Karimiani, EG

AU - Kuil, Laura

AU - Jensen, DM

AU - Daza, R

AU - Young, E

AU - Astle, L

AU - Zondervan - van der Linde, Herma

AU - Shivaram, GM

AU - Demmers, Jeroen

AU - Latimer, CS

AU - Keene, CD

AU - Loter, E

AU - Maroofian, R

AU - van Ham, Tjakko

AU - Hevner, RF

AU - Bennett, JT

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.03.010

DO - 10.1016/j.ajhg.2019.03.010

M3 - Article

C2 - 30982608

SN - 0002-9297

VL - 104

SP - 936

EP - 947

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -