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Article

Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.

European journal of medical genetics - 1 Apr 2020

Di Taranto Maria Donata, Giacobbe Carola, Fortunato Giuliana

Abstract excerpt

Familial hypercholesterolemia (FH) is the most frequent genetic disease and is characterized by elevation of LDL-cholesterol that accumulates in tissues leading to premature atherosclerosis and sometime tendon xanthomas. Main causes of FH are pathogenic variants in the genes encoding the LDL receptor (LDLR), its ligand - the apolipoprotein B (APOB) - or Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9). Rarer...

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Identifiers

PMID: 31883481
DOI: 10.1016/j.ejmg.2019.103831

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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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