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Article

Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis.

Clinical and experimental dermatology - 1 Oct 2015

Kong M-X, Zhang Q, Cao L, Zhao C, Ru G-Q, Bi Q

Abstract excerpt

Xanthomas are important clinical manifestations of disordered lipid metabolism, which are mostly found in patients with familial hypercholesterolaemia (FH), an inherited disorder that is predominantly caused by mutations in the low-density lipoprotein receptor gene (LDLR). Tuberous and tendinous xanthomas with wide distribution and large size are rare; however, they may indicate the severity of FH, and tend to be...

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Share to LDLR gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25807990
DOI: 10.1111/ced.12644

Genes

LDLR

Provenance

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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