Ontology highlight
ABSTRACT:
SUBMITTER: Pekkarinen P
PROVIDER: S-EPMC1376898 | biostudies-other | 1998 Feb
REPOSITORIES: biostudies-other
Pekkarinen P P Hovatta I I Hakola P P Järvi O O Kestilä M M Lenkkeri U U Adolfsson R R Holmgren G G Nylander P O PO Tranebjaerg L L Terwilliger J D JD Lönnqvist J J Peltonen L L
American journal of human genetics 19980201 2
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 <50 years of age. Since the 1960s, approximately 160 cases have been reported, mainly in Japan and Finland. The pathogenesis of the disease is unknown. In this article, we report the assignment of the locus for PLO-SL, by random genome screening using a modification of ...[more]