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  Nasu-Hakola Disease (3)

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

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

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Online Mendelian Inheritance in Man Open in a new windowLink Details
- 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.
- http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221770

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