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Article

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.

Journal of clinical lipidology - 1 Jan 2000

Rabacchi Claudio, Bigazzi Federico, Puntoni Mariarita, Sbrana Francesco, Sampietro Tiziana, Tarugi Patrizia, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

BACKGROUND: Homozygous familial hypercholesterolemia is a rare clinical phenotype with a variable expression, which is characterized by extremely elevated plasma low-density lipoprotein (LDL), tendon and skin xanthomas, and a progressive atherosclerosis. In 95% of patients, homozygous familial hypercholesterolemia is due to mutations in low-density lipoprotein receptor (LDLR) gene, which abolish...

Read the complete abstract on PubMed

Topics

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Share to Apolipoproteins B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Lipoproteins, HDL

Share to Lipoproteins, LDL

Share to Mutation, Missense

Share to Receptors, LDL

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Source

Identifiers

PMID: 27578127
DOI: 10.1016/j.jacl.2016.04.005

Genes

LDLR
ANGPTL3
APOB
APOC3
APOE
PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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