作者: Leena Peltonen , Petra Pekkarinen , Iiris Hovatta , Panu Hakola , Osmo Järvi
DOI: 10.1086/301722
关键词: Pathology 、 Internal medicine 、 Cyst 、 Frontal lobe 、 Osteochondrodysplasia 、 Medicine 、 Central nervous system disease 、 Chromosome 19 、 Endocrinology 、 Leukoencephalopathy 、 Degenerative disease 、 Dementia
摘要: Summary PLO-SL (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile frontal-lobe dementia, resulting in death at