Nasu-Hakola Disease Genetic Disorders Conditions and Diseases
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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Nasu-Hakola Disease
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- CNS Manifestations of Nasu-Hakola Disease: A Frontal Dementia with Bone Cysts - Abstract of paper by Paloneva et al.
- Online Mendelian Inheritance in Man - Population genetics, references, and symptoms of polycystic lipomembranous conditions and diseases nasu-hakola disease osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola conditions and diseases nasu-hakola disease disease, and as presenile dementia with bone cysts.
- 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 nasu-hakola disease discovery of the genetic defect causing Polycystic Lipomembranous Osteodysplasia with nasu-hakola disease Sclerosing Leukoencephalopathy.
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