Presentation Information
[P1-12-1]A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
○Masamune Sakamoto1,2,5, Toshihide Shiiki3, Shuji Matsui3, Nobuhiko Okamoto4, Eriko Koshimizu1, Naomi Tsuchida1,5, Yuri Uchiyama1,5, Kohei Hamanaka1, Atsushi Fujita1, Satoko Miyatake1,6, Kazuharu Misawa1,7, Takeshi Mizuguchi1, Matsumoto Naomichi1 (1.Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 2.Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 3.Department of Pediatrics, Tokyo Children Rehabilitation Hospital, Tokyo, Japan, 4.Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan, 5.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 6.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 7.Riken Center for Advanced Intelligence Project, Tokyo, Japan)