Ann Pediatr Endocrinol Metab.  2024 Oct;29(5):344-346. 10.6065/apem.2348030.015.

Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia

Affiliations
  • 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • 2Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea


Figure

  • Fig. 1. Xanthomas present in the patient. (A) The largest xanthoma was observed on the patient's right elbow and had developed at 5 years of age. (B) Multiple xanthomas were observed on both buttocks .


Reference

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