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Article

Analysis of Children and Adolescents with Familial Hypercholesterolemia.

The Journal of pediatrics - 1 Apr 2017

Minicocci Ilenia, Pozzessere Simone, Prisco Cristina, Montali Anna, di Costanzo Alessia, Martino Eliana, Martino Francesco, Arca Marcello

Abstract excerpt

OBJECTIVE: To evaluate the effectiveness of criteria based on child-parent assessment in predicting familial hypercholesterolemia (FH)-causative mutations in unselected children with hypercholesterolemia. STUDY DESIGN: LDLR, APOB, and PCSK9 genes were sequenced in 78 children and adolescents (mean age 8.4 ± 3.7 years) with clinically diagnosed FH. The presence of polygenic hypercholesterolemia was further...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28161202
DOI: 10.1016/j.jpeds.2016.12.075

Genes

LDLR
APOB
PCSK9

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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