Presentation Information
[O8-06]Childhood-onset white matter disease and brain malformations caused by heterozygous end-truncating LAMB1 variants
Ryo Sugiyama1, Satoko Miyatake1,2, Kohei Hamanaka1, Eriko Koshimizu1, Kunihiro Yoshida3, Kouichi Ohta4, Kazuo Kodama5, Taku Omata6, Naomi Tsuchida1,7, Yuri Uchiyama1,7, Masamune Sakamoto1, Takeshi Mizuguchi1, Hirotomo Saitsu8, Naomichi Matsumoto1,2,7,9 (1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 3. Department of Neurology, JA Nagano Kouseiren, Kakeyu-Misayama Rehabilitation Center Kakeyu Hospital, Ueda, Japan, 4. Department of Neurology, KKR Tachikawa Hospital, Tachikawa, Japan, 5. Home Care Clinic Aozora Makuhari, Medical Incorporated Foundation Harutaka Kai, Chiba, Japan, 6. Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan, 7. Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 8. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 9. Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan)
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