Nasu-hakola Disease - Genetic Disorders, Conditions and Diseases

Genetic Disorders, Conditions and Diseases, Health – Top

Dementia - Neurological Disorders, Conditions and Diseases, Health 49

Conditions and Diseases - Health, Finland, Europe, Regional

CNS Manifestations of Nasu-Hakola Disease: A Frontal Dementia with Bone Cysts CNS Manifestations of Nasu-Hakola Disease: A Frontal Dementia with Bone Cysts

Abstract of paper by Paloneva et al.

www.neurology.org

Loss-of-function mutations in TYROBP (DAP12) result in a 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 discovery of the genetic defect causing Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.

www.nature.com

Online Mendelian Inheritance in Man 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.

www.ncbi.nlm.nih.gov


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