Presentation Information
[P1-07-01]Reclassification of TMEM67 Variants in Japanese Siblings with Lethal Joubert Syndrome
Naoki Tsuchiya1, Miki Tanoshima1, Fuka Anzai1, Sumiko Sueyoshi1, Akifumi Ijuin1, Kotomi Imanishi2, Hiromi Nagase2, Hiroshi Ishikawa2, Yukiko Kuroda3, Yutaro Takahashi4, Kazuya Hiiragi4, Ryosuke Shindo4, Obata Soichiro4, Mana Kohara4, Takahiro Kenmotsu4, Tomonari Hayama5, Shigeru Aoki4, Etsuko Miyagi6 (1. Department of Clinical Genetics, Yokohama City University Medical Center, 2. Division of Obstetrics and Gynecology, Kanagawa Children's Medical Center, 3. Division of Medical Genetics, Kanagawa Children's Medical Center, 4. Perinatal Center for Maternity and Neonate, Yokohama City University Medical Center, 5. Department of Gynecology, Yokohama City University Medical Center, 6. Department of Obstetrics and Gynecology, Yokohama City University School of Medicine)
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