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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO‐SL): a genealogical study of Swedish families of probable Finnish background
Author(s) -
Nylander P.O.,
Drugge U.,
Holmgren G.,
Adolfsson R.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02387.x
Subject(s) - inheritance (genetic algorithm) , leukoencephalopathy , genetics , biology , demography , genealogy , disease , medicine , history , pathology , sociology , gene
Four Swedish families in northern Sweden with polycystic lipomembranous ostodysplasia (PLO‐SL) were studied genealogically. Historical and genealogical data 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.