Case Report
Copyright ©The Author(s) 2019.
World J Clin Cases. Oct 26, 2019; 7(20): 3303-3309
Published online Oct 26, 2019. doi: 10.12998/wjcc.v7.i20.3303
Figure 1
Figure 1 Sanger sequencing confirmed a de novo heterozygous mutation of the SPTB gene (NM_000347. 5). c.2413 C > T (p.Gln805*), and two inherited novel heterozygous mutations of the ABCC2 gene (NM 000392.4), c.4313+1 G > T from the father and c.3629 G > A (R1210H) from the mother, are shown.