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- W2093018732 abstract "Abstract: Familial homozygous hypercholesterolemia is a rare autosomal dominant, metabolic disorder caused by mutation in the gene, which encodes the synthesis of low‐density lipoprotein receptors and is characterized by increased serum low‐density lipoprotein cholesterol. Multiple types of xanthomas occur, such as tendinous, tuberous, xanthelasma, and sub‐periosteal. Intertriginous xanthomas are rare but if present are pathognomonic of this disorder. We report two children with familial homozygous hypercholesterolemia who had multiple xanthomas including the intertriginous variety." @default.
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- W2093018732 date "2007-05-01" @default.
- W2093018732 modified "2023-10-13" @default.
- W2093018732 title "Familial Homozygous Hypercholesterolemia: Report of Two Patients and Review of the Literature" @default.
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- W2093018732 doi "https://doi.org/10.1111/j.1525-1470.2007.00391.x" @default.
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