Presentation Information
[O17-05]Genomic Re-evaluation of an Xp11.3 Deletion in a Man Reveals a Contiguous Gene Deletion Syndrome Involving KDM6A and RP2
Motoko Kamiya1,2,3, Akiko Sakyu1, Kyoko Takano1,2, Tomoki Kosho1,2,4 (1. Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 2. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 3. Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan, 4. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan)
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