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CSF1R

MIM.164770 5q33.2-q33.3

Friday 9 December 2005

Pathology

- involved in del(5q)(q33q34) in myelodysplastic syndromes
- germline mutations in predisposition to myeloid malignancies (MIM.164770)

References

- Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. (22197934)

References

- Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, Dejesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, Mackenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Nat Genet. 2011 Dec 25. PMID: 22197934