[A case report of Diets-Jongmans syndrome caused by a KDM3B gene variant]
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A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism. Whole-exome sequencing revealed a de novo likely pathogenic heterozygous... ...
