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Article

From Phenotype to Genotype and Beyond: Insights into Familial Hypercholesterolemia and Familial Hypertriglyceridemia.

Medicina (Kaunas, Lithuania) - 29 Jun 2026

Cozma Dragos, Lighezan Daniel Florin, Tudoran Cristina, Voinescu Oana Raluca, Mornos Cristian

Abstract excerpt

Familial hypercholesterolemia (FH) and familial hypertriglyceridemia (FHTG) represent a spectrum of inherited conditions with profoundly different etiologies, risk profiles, and therapeutic implications. Despite decades of clinical experience, their formal diagnostic definitions remain rooted in frameworks developed before the genomic era (the Dutch Lipid Clinic Network (DLCN) score), leading to substantial gaps...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42512800
DOI: 10.3390/medicina62071257
PMCID: PMC13413835

Genes

FH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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