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Article

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

Journal of atherosclerosis and thrombosis - 1 Jul 2016

Tada Hayato, Kawashiri Masa-Aki, Okada Hirofumi, Endo Saori, Toyoshima Yuka, Konno Tetsuo, Nohara Atsushi, Inazu Akihiro, Takao Akira, Mabuchi Hiroshi, Yamagishi Masakazu, Hayashi Kenshi

Abstract excerpt

Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe hypercholesterolemia (initial LDL cholesterol=609 mg/dl at the age of one) and systemic intertriginous xanthomas with...

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Topics

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Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Mediterranean Fever

Share to Hypercholesterolemia

Share to Intestinal Diseases

Share to Lipid Metabolism, Inborn Errors

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Source

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Identifiers

PMID: 27170062
DOI: 10.5551/jat.34827
PMCID: PMC7399263

Genes

ABCG5
MEFV

Variants

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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