Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination.
作者信息
Shiohama Tadashi, Nakashima Mitsuko, Ikehara Hajime, Kato Mitsuhiro, Saitsu Hirotomo
机构信息
Department of Pediatrics, Graduated School of Medicine, Chiba University, Chiba, Japan.
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
出版信息
Congenit Anom (Kyoto). 2020 May;60(3):94-96. doi: 10.1111/cga.12351. Epub 2019 Jul 29.
PMID:31328296
Abstract
摘要
Zotero 插件