title: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background.
abstract: Four Swedish families in northern Sweden with polycystic lipomembranous osteodysplasia (PLO-SL) were studied genealogically. Historical and genealogical date provided evidence for a Finnish origin. Both parents of two of the families could be traced back to Finnish ancestors, and the other two families had a common origin in a region with a known Finnish influence, but without evidence for Finnish ancestry. PLO-SL is the first rare monogenic disease with an autosomal recessive inheritance in Sweden with a probable Finnish origin.
authors.affiliation: Department of Psychiatry, University of Umeå, Sweden.
authors.forename: P O
authors.initials: PO
authors.lastname: Nylander
authors.forename: U
authors.initials: U
authors.lastname: Drugge
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: R
authors.initials: R
authors.lastname: Adolfsson
mesh_terms: D001847:Bone Diseases / Q000235:genetics*; D005260:Female; D005387:Finland; D006801:Humans; D008297:Male; D010375:Pedigree; D013548:Sweden