Article

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

2020-07-30

Abstract excerpt

<title>Abstract</title> <p>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 dysmorphism. SRS phenotypes evolve with age from childhood to adulthood. <h4>Methods:</h4> Whole...

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Literature Corpus work: e3507d9f-7514-5802-afbc-bf4a47ec2450
DOI: 10.21203/rs.3.rs-23574/v4

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