Copyright
©The Author(s) 2025.
World J Clin Cases. Apr 6, 2025; 13(10): 101935
Published online Apr 6, 2025. doi: 10.12998/wjcc.v13.i10.101935
Published online Apr 6, 2025. doi: 10.12998/wjcc.v13.i10.101935
Gene | Chromosome location | Variation | Homozygous/heterozygous | Pathogenicity |
ABCG5 | chr2: 44050063 | c.1336C>T (p.Arg446Ter) | Homozygous | Pathogenic |
APOB | chr2: 21252807 | c.1433G>A (p.Cys478Tyr) | Heterozygote | Unknown |
APOB | chr2: 21228437 | c.11303T>C (p.Ile3768Thr) | Heterozygote | Unknown |
- 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