SMS

Publications

Albert JS et al. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder – Robinson syndrome. Orphanet J Rare Dis. 2015;10:27.  PMID: 25888122.

Arena JF et al. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. Am J Med Genet. 1996;64:50-58.  PMID: 8826448.

Becerra-Solano LE et al. A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. Am J Med Genet A. 2009;149A:328-335.  PMID: 19206178.

Cason AL et al. X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet. 2003;11:937-944.  PMID: 14508504.

de Alencastro G et al. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet. 2008;45:539-543.  PMID: 18550699.

Kesler SR et al. The impact of spermine synthase (SMS) mutations on brain morphology. Neurogenetics. 2009;10:299-305.  PMID: 19277733.

Li C et al. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nat Commun. 2018;9:337.  PMID: 29348635.

Peron A et al. Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet A. 2013;161A(9):2316-20.  PMID: 23897707.

Snyder RD et al. Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin Pediatr (Phila). 1969;8:669-674.  PMID: 5823961.

Starks R et al. Snyder-Robinson syndrome. Autops Case Rep. 2018;8:e2018031.  PMID: 30237987.

Zhang Z et al. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013;22:3789-3797.  PMID: 23696453.