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Nasu-Hakola_Disease
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Health: Conditions and Diseases: Neurological Disorders: Dementia
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Regional: Europe: Finland: Health: Conditions and Diseases
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CNS Manifestations of Nasu-Hakola Disease: A Frontal Dementia with Bone Cysts
- Abstract of paper by Paloneva et al.
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
- 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
- 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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