Presentation Information
[P2-07-14]Identification of pathogenic RNU4-2 variants in neurodevelopmental disorders
Yukina Hayashi1, Juliet Taylor2, Nerine Gregersen2, Hitoshi Osaka3, Dorit Lev4, Tally Sagie4, Ifat Nezer-Kaner4, Patrick Yap2, Wee Teik Keng5, Mei Yan Chan5, Mitsuhiro Kato6, Yasunari Sakai7, Kenta Kajiwara7, Katsuya Tashiro8, Li Fu1,9, Kazuhiro Iwama1,10, Qiaowei Liang1, Naoto Nishimura1, Suzuran Saito1, Masamune Sakamoto1,11, Yasuhiro Utsuno1, Naomi Tsuchida1,11, Yuri Uchiyama1,11, Eriko Koshimizu1, Kohei Hamanaka1, Satoko Miyatake1,12, Takeshi Mizuguchi1, Atsushi Fujita1, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan, 2.Genetic Health Service NZ, Northern Hub, Auckland City Hospital, Auckland, New Zealand, 3.Department of Pediatrics, Jichi Medical School, Tochigi, Japan, 4.Wolfson Medical Center, Holon, Israel, 5.Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia, 6.Department of Pediatrics, Showa Medical University School of Medicine, Tokyo, Japan, 7.Department of Pediatric and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 8.Department of Pediatrics, Japanese Red Cross Karatsu Hospital, Saga, Japan, 9.Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan, 10.Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan, 11.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Kanagawa, Japan, 12.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Kanagawa, Japan)
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