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

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 ...

Source: BMC Medical Genetics - August 24, 2020 Category: Genetics & Stem Cells Authors: Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir and Hong Qing Tags: Research article Source Type: research