Presentation Information
[P1-09-08]A case with KDM6B-related neurodevelopmental disorder harboring a novel pathogenic variant
Kentaro Okada1, Tomoki Nonaka1, Mai Adachi2, Takehisa Fujiwaki3, Kaori Adachi4, Yoshihiro Maegaki5, Masamune Sakamoto6, Naomichi Matsumoto6,7,8,9, Hiroyuki Awano1,4 (1. Department of Clinical Genetics, Tottori University Hospital, Yonago, Japan, 2. Division of Nursing, Tottori University Hospital, 3. Division of Pediatrics, Matsue Red Cross Hospital, 4. Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, 5. Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 6. Department of Human Genetics, Yokohama City University Graduate School of Medicine, 7. Department of Clinical Genetics, Yokohama City University Hospital, 8. Department of Rare Disease Genomics, Yokohama City University Hospital, 9. Medical Genome Center, National Center of Neurology and Psychiatry)
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