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.
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Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.
Folia Neuropathol
August 2024
Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.
Article Synopsis
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Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.
Mol Genet Genomic Med
June 2024
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
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J Mol Model
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Bioinformatics Division, ICMR-Regional Medical Research Centre, Nalco Square, Chandrasekharpur, Bhubaneswar, 751023, Odisha, India.
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View Article and Find Full Text PDFDefects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
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Department of Psychiatry, Washington University in St Louis, St Louis, MO, USA.
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Nat Immunol
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Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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