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[Three-year-old boy--a homozygote for familiar hypercholesterolemia].

Lijecnicki vjesnik - 1 May 2007

Dumić Miroslav, Uroic Anita Spehar, Francetić Igor, Puretić Zvonimir, Matisić Danica, Kes Petar, Mikecin Martina, Reiner Zeljko

Abstract excerpt

Homozygous familial hypercholesterolemia (FH) is a rare autosomal dominant disorder caused by mutations in the low-density-lipoprotein (LDL) receptor gene. It occurs with a frequency of approximately 1 per million persons world-wide. Clinically, homozygous FH is associated with extremely elevated levels of LDL cholesterol and cutaneous xanthomas that develop in early childhood. These children are at risk of...

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PMID: 17695192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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