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Analysis of the pathogenic genetic mutation in the patient (a) This patient’s family tree. The unaffected man and female are represented by a blank square and circle, respectively. The filled square represents the afflicted male while the arrow represents the proband. (b) Sanger sequencing confirmed a heterozygous KMT2A c.7009C>T (red arrow). At this nucleotide, both parents had the wild-type sequence.
