Homozygous phytosterolemia and a literature review: A case report

doi:10.12998/wjcc.v13.i10.101935

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Apr 6, 2025 (publication date) through Dec 23, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

World J Clin Cases. Apr 6, 2025; 13(10): 101935
Published online Apr 6, 2025. doi: 10.12998/wjcc.v13.i10.101935

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Figure 1 ABCG5 and APOB mutations detected in the patient by whole exome sequencing. A: Homozygous variant at the ABCG5 c.1336C>T locus; B: Heterozygous mutation at the APOB c.1433G>A site; C: Heterozygous variant at the APOB c.11303T>C site.

Citation: Jiang CX, Yang G, Shi LP, Su PY. Homozygous phytosterolemia and a literature review: A case report. World J Clin Cases 2025; 13(10): 101935
URL: https://www.wjgnet.com/2307-8960/full/v13/i10/101935.htm
DOI: https://dx.doi.org/10.12998/wjcc.v13.i10.101935