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Article

Modeling CSF-1 receptor deficiency diseases - how close are we?

The FEBS journal - 1 Sept 2022

Chitu Violeta, Gökhan Şölen, Stanley E Richard

Abstract excerpt

The role of colony-stimulating factor-1 receptor (CSF-1R) in macrophage and organismal development has been extensively studied in mouse. Within the last decade, mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, OMIM #618476) and adult (CSF1R-related leukoencephalopathy, OMIM #221820) onset. Here we review the genetics,...

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Identifiers

PMID: 34145972
DOI: 10.1111/febs.16085
PMCID: PMC8684558

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