CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids - Eichler, Florian S.; Li, Jiankang; Guo, Yiran; Caruso, Paul A.; Bjonnes, Andrew C.; Pan, Jessica; Booker, Jessica K.; Lane, Jacqueline M.; Tare, Archana; Vlasac, Irma; Hakonarson, Hakon; Gusella, James F.; et al. (Brain (London, England : 1878), 2016)
Keywords: Adult; Aged, 80 and over; Chimerism; Female; Genetic Predisposition to Disease - genetics; Hematopoietic Stem Cell Transplantation; Humans; Leukoencephalopathies - genetics; Leukoencephalopathies - surgery; Male; Middle Aged; Mosaicism; Mutation, Missense; Receptor, Macrophage Colony-Stimulating Factor - genetics; neurodegeneration; dementia; leukodystrophy; neuroinflammation; whole exome sequencing