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Article

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.

Clinical genetics - 1 Jan 2012

Huijgen R, Stork A D M, Defesche J C, Peter J, Alonso R, Cuevas A, Kastelein J J P, Duran M, Stroes E S G

Abstract excerpt

Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional hereditary lipid or...

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Identifiers

PMID: 21955034
DOI: 10.1111/j.1399-0004.2011.01793.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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