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©The Author(s) 2022.
World J Clin Cases. Oct 26, 2022; 10(30): 11016-11022
Published online Oct 26, 2022. doi: 10.12998/wjcc.v10.i30.11016
Published online Oct 26, 2022. doi: 10.12998/wjcc.v10.i30.11016
Figure 2 Splicing mutations found in the neonate.
The DNA chromatograms highlighted the mutations. A: c.96+1G>C in the proband; B: c.96+1G>C in the father; C: No abnormality in the mother.
- Citation: Yang H, Lin SZ, Guan SH, Wang WQ, Li JY, Yang GD, Zhang SL. Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report. World J Clin Cases 2022; 10(30): 11016-11022
- URL: https://www.wjgnet.com/2307-8960/full/v10/i30/11016.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i30.11016