Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.
Talal Jamil QaziQiao WuAilikemu AierkenDaru LuIhtisham BukhariHafiz Muhammad Jafar HussainJingmin YangAsif MirHong QingPublished in: BMC medical genetics (2020)
A novel missense variant in the SMS, c.905C > T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.