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Nasu-Hakola Disease (3) See Also:
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» CNS Manifestations of Nasu-Hakola Disease: A Frontal Dementia with Bone Cysts
Abstract of paper by Paloneva et al. http://www.neurology.org/cgi/content/abstract/56/11/1552 » 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. http://www.nature.com/ng/journal/v25/n3/full/ng0700_357.html » 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. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221770 This category needs an editor
Last Updated: 2007-01-02 16:35:20
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