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

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주제분류소아과학

참고문헌 (10)

  1. Tada H, "Diagnosis and Management of Sitosterolemia 2021", J Atheroscler Thromb, 28, pp.791~801 (2021)
  2. Yoo EG, "Sitosterolemia : a review and update of pathophysiology, clinical spectrum, diagnosis, and management", Ann Pediatr Endocrinol Metab, 21, pp.7~14 (2016)
  3. Lim JS, "2017 Clinical practice guidelines for dyslipidemia of Korean children and adolescents", Ann Pediatr Endocrinol Metab, 25, pp.199~207 (2020)
  4. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  5. Tada H, "Clinical and genetic features of sitosterolemia in Japan", Clin Chim Acta, 530, pp.39~44 (2022)
  6. Keller S, "Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5 : a case report", Eur J Med Genet, 54, pp.e458~e460 (2011)
  7. Mekchay P, "Whole exome sequencing for diagnosis of hereditary thrombocytopenia", Medicine(Baltimore), 99, pp.e23275~ (2020)
  8. Xu L, "Features of Sitosterolemia in Children", Am J Cardiol, 125, pp.1312~1316 (2020)
  9. Lee JH, "High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence", PLoS One, 15, pp.e0238079~ (2020)
  10. Park JH, "Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant : case report and brief review", J Clin Endocrinol Metab, 99, pp.1512~1518 (2014)

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