A female case of L1 syndrome that may have developed due to skewed X inactivation.

导出 LinkOut

翻译打印收藏纠错

作者： Tatsuo,Mori ^[1] ; Mutsuki,Nakano ^[2] ; Takahiro,Tayama ^[2] ; Aya,Goji ^[2] ; Yoshihiro,Toda ^[2] ; Shinichi,Kameyama ^[3] ; Takeshi,Mizuguchi ^[3] ; Maki,Urushihara ^[2] ; Naomichi,Matsumoto ^[3]

作者单位： Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Japan. Electronic address: mori.tatsuo@tokushima-u.ac.jp. ^[1] Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Japan. ^[2] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan. ^[3]

关键词 Hydrocephalus Hypoplasia of the corpus callosum L1 syndrome L1CAM Skewed X-inactivation

主题词人类(Humans);女(雌)性(Female);X染色体失活(X Chromosome Inactivation);神经细胞黏附分子L1(Neural Cell Adhesion Molecule L1);脑积水(Hydrocephalus);儿童, 学龄前(Child, Preschool)

DOI 10.1016/j.braindev.2024.03.001

PMID 38480026

发布时间 2024-05-15

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交