Associated Papers
Structural Insights into the Mechanisms Underlying Polyaminopathies.
Wu B et al.
International Journal of Molecular Sciences, 2024
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
Mouskou S et al.
Molecular Syndromology, 2021
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
Larcher L et al.
European Journal of Medical Genetics, 2020
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