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Nasu-Hakola Disease

Health > Conditions and Diseases > Genetic Disorders > Nasu-Hakola Disease

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CNS Manifestations of Nasu-Hakola Disease: A Frontal Dementia with Bone Cysts - http://www.neurology.org/cgi/content/abstract/56/11/1552
Abstract of paper by Paloneva et al.

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts - http://www.nature.com/ng/journal/v25/n3/full/ng0700_357.html
Paper in Nature Genetics by Paloneva et al describing the discovery of the genetic defect causing Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.

Online Mendelian Inheritance in Man - http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221770
Population genetics, references, and symptoms of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola disease, and as presenile dementia with bone cysts.

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