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

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

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...

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Bibliographic Details
Main Authors: Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir, Hong Qing
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Medical Genetics
Subjects:
Snyder-Robinson syndrome
SMS
X-linked mental retardation
Intellectual disability
Gait abnormalities
Online Access:http://link.springer.com/article/10.1186/s12881-020-01095-x

Internet

http://link.springer.com/article/10.1186/s12881-020-01095-x

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