Presentation Information
[O6-06]A case of SUFU haploinsufficiency presenting with mild Joubert syndrome spectrum and intellectual developmental disorder
Kentaro Shirai1, Jun Oyama2, Akimitsu Watababe1, Yu Shiguta3,4,5, Megumi Ueda3,4,6, Hironao Shirai4,7, Rina Shimomura3, Keiko Shimojima Yamamoto3,8, Toshiyuki Yamamoto3,4 (1. Department of Pediatrics, Tsuchiura Kyodo General Hospital, Ibaraki, Japan, 2. Department of Diagnostic Radiology, Institute of Science Tokyo Hospital, Tokyo, Jpan, 3. Institute of Medical Genetics, Tokyo Womens Medical University, Tokyo, Japan, 4. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Womens Medical University, Tokyo, Japan, 5. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 6. Department of Pediatrics, Tokyo Womens Medical University School of Medicine, Tokyo, Japan, 7. Department of Pediatrics, Kitasato University School of Medicine, Sagami, Japan, 8. Department of Transfusion Medicine and Cell Processing, Tokyo Womens Medical University, Tokyo, Japan)
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