A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities

作者：Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto · 发表于：Journal of Human Genetics · 年份：2023 · DOI：10.1038/s10038-023-01209-2 · 被引用次数：10 · 研究领域：Ubiquitin and proteasome pathways、Genetics and Neurodevelopmental Disorders、Autophagy in Disease and Therapy