Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1.

Family pedigree of the proband with Mowat–Wilson syndrome (A) and electropherogram of the novel heterozygous mutation of ZEB2 (B). Whole-exome sequencing performed in the proband found the likely pathogenic variant of ZEB2 in the proband, with the sequences verified using Sanger sequencing in trio. The variant was novel in that it was found only in the proband (red arrow) and not in her parents (black arrow) (B).

Journal of Genetic Medicine 2019;16:71-5
© 2019 Korean Society of Medical Genetics and Genomics