Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO‐SL): a genealogical study of Swedish families of probable Finnish background
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 famili...
Published in: | Clinical Genetics |
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Main Authors: | , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Wiley
1996
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Subjects: | |
Online Access: | http://dx.doi.org/10.1111/j.1399-0004.1996.tb02387.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1996.tb02387.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1996.tb02387.x |
Summary: | 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. |
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