Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

作者：Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Hideaki Mashimo, Satoko Kumada, Keiko Ishigaki, Nobuhiko Okamoto, Mahdiyeh Behnam, Mohsen Ghadami, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto · 发表于：Journal of Human Genetics · 年份：2020 · DOI：10.1038/s10038-020-00853-2 · 被引用次数：26 · 研究领域：Fetal and Pediatric Neurological Disorders、Cancer-related molecular mechanisms research、RNA modifications and cancer