Presentation Information
[P1-09-07]Novel atypical CAH-X allele and new molecular pathogenesis revealed by integrated analysis of TNXB chimeric structures
Tomomi Yamaguchi1,2,3, Kei Takasawa4, Eriko Adachi4,5, Yoko Saito4, Yuri Takiguchi3, Katsuyuki Matsui6, Akari Utsunomiya7, Shizuka Kirino4,5, Haruki Yamano4, Hisae Nakatani4, Yukihiro Hasegawa8, Takashi Hamajima9, Masanobu Kawai10, Tomonobu Hasegawa11, Satoshi Narumi11, Kenichi Kashimada4,5, Tomoki Kosho1,2,3,12,13 (1. Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 2. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 3. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 4. Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan, 5. Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan, 6. Division of Pediatric Endocrinology, Metabolism & Diabetes, Shiga General Hospital, Moriyama, Japan, 7. Department of Pediatrics, Cancer genome, Hiroshima City North Medical Center, Asa Citizens Hospital, Hiroshima, Japan, 8. Department of Pediatrics, Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 9. Department of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Obu, Japan, 10. Department of Molecular Genetics and Endocrinology, Research Institute, Osaka Women's and Children's Hospital Research Institute, Izumi, Japan, 11. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 12. Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan, 13. BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan)
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