Journal of medical case reports
Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
Li-Li Wu, Li Zhang, Ting-Ting Tang, Yuan-Yuan Zhou, Xin-Xia Chang, Wei Guo, Hong-Mei Yan, Huan-Dong Lin
Published: 202610.1186/s13256-025-05814-x
Abstract
BACKGROUND: Sitosterolemia is an autosomal recessive genetic disorder characterized by hypercholesterolemia and tendon/hip xanthomas, primarily caused by pathogenic mutations in the ABCG5 or ABCG8 gene. CASE PRESENTATION: We report the clinical featu…
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