Case Report
Copyright ©The Author(s) 2021.
World J Clin Cases. Nov 16, 2021; 9(32): 10018-10023
Published online Nov 16, 2021. doi: 10.12998/wjcc.v9.i32.10018
Figure 1
Figure 1 Pedigrees of the investigated case with MKRN3 mutation. Square indicates male family member, circles indicate female members, the black symbol indicates clinically affected family member, the symbol with black circle indicates unaffected carrier, arrow indicates the proband, the arrow indicates the profound in this family.
Figure 2
Figure 2 Whole-exome sequencing showing the novel heterozygous mutation (c. 841 C>T) in MKRN3 detected in the profound. The same mutation was covered in A’s twin sister, her father and grandmother, but not A’s mother.