Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

• 主要な著者: Talal J. Qazi (著者), Qiao Wu (著者), Ailikemu Aierken (著者), Daru Lu (著者), Ihtisham Bukhari (著者), Hafiz M. J. Hussain (著者), Jingmin Yang (著者), Asif Mir (著者), Hong Qing (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial...