The 71st Annual Meeting of the Japan Society of Human Genetics
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Session Details

Poster Session

[P1-07]Mendelian Disorders 1

Thu. Nov 19, 2026 4:00 PM - 5:00 PM JST
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Exhibition Hall 1-A+2 (7) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)

[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)

[P1-07-02]Double de novo pathogenic variants of the NF1 and H1-4 genes in a patient with macrocephaly and intellectual disability

Yumi Enomoto1, Yasuyuki Fukuhara2, Kumiko Yanagi1, Masahiko Yamamori1, Tadashi Kaname1,3 (1. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 3. Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Sendai, Japan)

[P1-07-03]A novel CRYGC mutation identified in a patient with congenital cataract

Mamoru Yokomura1, Rina Shimomura1, Megumi Ueda2,3, Yu Shiguta2,4, Hironao Shirai2,5, Keiko Yamamoto1,6, Toshiyuki Yamamoto1,2 (1. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan, 3. Department of Pediatrics, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan, 4. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 5. Department of Pediatrics, Kitasato University School of Medicine, Kanagawa, Japan, 6. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan)
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