Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.

doi:10.1161/ATVBAHA.120.315491

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Article

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 Jan 2021

Rimbert Antoine, Vanhoye Xavier, Coulibaly Dramane, Marrec Marie, Pichelin Matthieu, Charrière Sybil, Peretti Noël, Valéro René, Wargny Matthieu, Carrié Alain, Lindenbaum Pierre, Deleuze Jean-François, Genin Emmanuelle, Redon Richard, Rollat-Farnier Pierre Antoine, Goxe Didier, Degraef Gilles, Marmontel Oriane, Divry Eléonore, Bigot-Corbel Edith, Moulin Philippe, Cariou Bertrand, Di Filippo Mathilde

Abstract excerpt

OBJECTIVE: Primary hypobetalipoproteinemia is characterized by LDL-C (low-density lipoprotein cholesterol) concentrations below the fifth percentile. Primary hypobetalipoproteinemia mostly results from heterozygous mutations in the APOB (apolipoprotein B) and PCSK9 genes, and a polygenic origin is hypothesized in the remaining cases. Hypobetalipoproteinemia patients present an increased risk of nonalcoholic fatty...

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PMID: 33207932
DOI: 10.1161/ATVBAHA.120.315491

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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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