Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
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DOI: 10.1016/j.ajhg.2019.03.004
Abstract: Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids… read more here.
Keywords: csf1r mutations; mutations cause; allelic csf1r; skeletal dysplasia ... See more keywords