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Article

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical genetics - 1 Nov 2021

Di Taranto Maria Donata, Giacobbe Carola, Palma Daniela, Iannuzzo Gabriella, Gentile Marco, Calcaterra Ilenia, Guardamagna Ornella, Auricchio Renata, Di Minno Matteo Nicola Dario, Fortunato Giuliana

Abstract excerpt

Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL-cholesterol and premature cardiovascular disease. We aim to perform a retrospective analysis of a genetically screened population (528 unrelated patients-342 adults and 186 children) to evaluate the biochemical and clinical correlations with the different...

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Identifiers

PMID: 34297352
DOI: 10.1111/cge.14036
PMCID: PMC9291778

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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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