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

• Main Authors: Talal J. Qazi (Author), Qiao Wu (Author), Ailikemu Aierken (Author), Daru Lu (Author), Ihtisham Bukhari (Author), Hafiz M. J. Hussain (Author), Jingmin Yang (Author), Asif Mir (Author), Hong Qing (Author)
• Format: Book
• Published: BMC, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...