A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

• Main Authors: Qin Wang (Author), Jingxin Yang (Author), Yang Liu (Author), Xingping Li (Author), Fuwei Luo (Author), Jiansheng Xie (Author)
• 格式: 圖書
• 出版: BMC, 2018-11-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems. Mutations in the creatine transporter gene SLC6A8, a member of the solute-carrier...