Article
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
American journal of medical genetics. Part A - 1 Sept 2013
Peron Angela, Spaccini Luigina, Norris Joy, Bova Stefania M, Selicorni Angelo, Weber Giovanna, Wood Tim, Schwartz Charles E, Mastrangelo Massimo
Abstract excerpt
Snyder-Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech. Physical signs seem to evolve from childhood to adulthood. We...
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