Case Report
Copyright ©The Author(s) 2021.
World J Clin Cases. Feb 26, 2021; 9(6): 1475-1482
Published online Feb 26, 2021. doi: 10.12998/wjcc.v9.i6.1475
Figure 2
Figure 2 PKHD1 and DUOX2 mutations analysis of the patient and his family. A and B: The proband carried the homozygous mutation c.2141-3T>C of PKHD1 (A) and c.2921G>A of DUOX2 gene (B); C and D: The father had heterozygous c.2141-3T>C of PKHD1 (C) and c.2921G>A of DUOX2 gene (D); E and F: The mother carried heterozygous c.2141-3T>C of PKHD1 (E) and c.2921G>A of DUOX2 gene (F).