Condition: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY


rs104893998 in LOC105375056;TREM2 gene and POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PMID 12925681 2003 DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.

rs121908402 in TREM2;LOC105375056 gene and POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PMID 15883308 2005 The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

PMID 18546367 2008 Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

rs104894732 in TYROBP gene and POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PMID 12370476 2002 Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.

PMID 10888890 2000 Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.