Copyright
©The Author(s) 2020.
World J Clin Cases. Dec 6, 2020; 8(23): 6197-6205
Published online Dec 6, 2020. doi: 10.12998/wjcc.v8.i23.6197
Published online Dec 6, 2020. doi: 10.12998/wjcc.v8.i23.6197
Figure 5 Possible genetic pedigree: The inheritance of HSPG2 and RIMS1.
The HSPG2 mutation is homozygous, while the RIMS1 mutation is heterozygous. The abnormal genotype of HSPG2 is likely caused by uniparental disomy, a single chromosome from her mother is duplicated leading to the homozygous mutation in HSPG2.
- Citation: Lin T, Li XY, Zou CY, Liu WW, Lin JF, Zhang XX, Zhao SQ, Xie XB, Huang G, Yin JQ, Shen JN. Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report. World J Clin Cases 2020; 8(23): 6197-6205
- URL: https://www.wjgnet.com/2307-8960/full/v8/i23/6197.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v8.i23.6197