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Hong-Mei Wu

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Review Open access Sep 2026

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis

Sitosterolemia (STSL) is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, characterized by hemolytic anemia, xanthomas, and atherosclerosis. Nephronophthisis (NPHP), another autosomal recessive disorder, is characterized by its devastating progression toward renal failure.

Dan Ding, Hong-Mei Wu, Fei Zhao et al. · 0 citations

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