Presentation Information
[P1-03-08]A mild form of RORA-related neurodevelopmental disorder in a Japanese patient with hypotonia and cerebellar ataxia
Kohei Haraguchi1, Yukino Kashiwabara2, Riko Matsuda2, Hiroyuki Mishima3, Koh-ichiro Yoshiura3, Sumito Dateki1 (1. Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan, 2. Department of Genetic Counseling, Clinical Genomics Center, Nagasaki University Hospital, Nagasaki, Japan, 3. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan)
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