Fig. 2. Genomic analysis of KAT6B. DNA sequence showed a heterozygous mutation of c.5206C>T (p.Gln1736Ter) in exon 18 (A), partial electrophenograms after Sanger sequencing results of the patient, his father and mother (B), and representative diagram of
KAT6B gene (C); exon, functional region, and genotype-phenotype correlations based on Vlckova M et al. [
11] and Radvanszky J et al. [
15].
