De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome.
作者信息
Imaizumi Taichi, Mogami Yukiko, Okamoto Nobuhiko, Yamamoto-Shimojima Keiko, Yamamoto Toshiyuki
机构信息
Department of Pediatrics, St. Marianna University, School of Medicine, Kawasaki, Japan.
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
出版信息
Congenit Anom (Kyoto). 2019 Nov;59(6):193-194. doi: 10.1111/cga.12322. Epub 2019 Jan 2.
PMID:30536491
Abstract
摘要
Zotero 插件