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Benal Buyukgebiz, MD; Yasemen Eroglu, MD; Necia T. Cevik, MD; Walter W. Tunnessen, Jr, MD

Arch Pediatr Adolesc Med. 1995;149(6):699-700.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

THE CUTANEOUS lesions pictured in Figure 1 through Figure 3 began to appear in the intergluteal cleft area when this child was 2 years of age.

Denouement and Discussion

Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia is a rare disorder of lipoprotein metabolism occurring in approximately one child in 1 million. It is a monogenic disorder at the low-density lipoprotein (LDL) receptor gene locus, but the phenotypic expression is variable because of at least 20 allelic mutations in the receptor gene that impair the receptor-mediated uptake of LDL from the circulation.¹ Low-density lipoprotein receptor formation may be disrupted by mutations in four areas: synthesis, transport, binding, and clustering.² Lipoprotein particles transport lipids, vitamins, and other hydrophobic substances in the aqueous . . . [Full Text PDF of this Article]

Author Affiliations
From the Department of Pediatrics, Dokuz Eylul University, Izmir, Turkey.

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