Presentation Information
[P1-12-4]A rare novel pathogenic deletion variant of the AXSL1 gene causing Bohring-Opitz syndrome
○Takaya Iida1, Arisa Igarashi1, Taiga Aoki1, Kumiko Yanagi1, Masahiko Yamamori1, Nana Kobayashi1, Yukimi Abe1, Tadashi Kaname1, Nobuhiko Okamoto2 (1.Department of Genome Medicine, National Center for Child Health and Development, 2.Department of Medical Genetics, Osaka Women's and Children's Hospital)