Presentation Information
[P1-08-06]Osteoporosis as complication in a 41-Year-Old Male with Rubinstein-Taybi Syndrome Caused by a CREBBP Frameshift Variant
Tatsuro Kondoh1, Yoshikazu Ninomiya1, Masafumi Fukuda1, Hiroyuki Mishima2, Koichiro Yoshiura2, Kohei Haraguchi3, Noriko Miyake3 (1. Dvision of Develomental Disabilities, The Misakaenosno Mutsumi Developmental, Medical and Welfare Center, 2. Department of Human Genetics, Nagasaki University, 3. Department of Pediatrics, Nagasaki University Hospital)
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