Copyright
©The Author(s) 2020.
World J Clin Cases. Nov 6, 2020; 8(21): 5446-5456
Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5446
Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5446
Figure 1 The pedigree of the family and the genetic test results.
A: The pedigree of the family with compound heterozygous CYP27A1 mutations; B and D: The normal control sequences; C: The variant in intron 7 (c.1263+1G>A); E: The variant in exon 2 (c.435G>T, p.Gly145Gly). Family members II:2 and II:5 were carriers of c.1263+1G>A and family members II:1 and II:3 were the carriers of c.435G>T. Family member II:4 carried the compound heterozygous CYP27A1 mutations.
- Citation: Cao LX, Yang M, Liu Y, Long WY, Zhao GH. Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review . World J Clin Cases 2020; 8(21): 5446-5456
- URL: https://www.wjgnet.com/2307-8960/full/v8/i21/5446.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v8.i21.5446