Presentation Information
[O6-04]A neonatal case of CHARGE syndrome with a synonymous CHD7 variant shown to be pathogenic by RNA analysis
Chikahiko Numakura1,2, Moeko Tanaka1,2, Sayaka Suzuki-Ajihara1,2, Eri Shijiki1,3, Megumi Saito-Tsuruoka1, Hiroyuki Takao4,5, Taisuke Nabeshima4, Koichi Toda4, Osamu Ohara6, Ikuma Musha1,2 (1. Department of Clinical Genomics, Saitama Medical University, Saitama, Japan, 2. Department of Pediatrics, Saitama Medical University, Saitama, Japan, 3. Department of Clinical Genomics, The University of Tokyo Hospital, 4. Department of Pediatric Cardiology, International Medical Center, Saitama Medical University, Saitama, Japan, 5. Department of Pediatrics, Saitama Medical Center, Saitama Medical University, Saitama, Japan, 6. Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan)
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