Associated Papers
Structural Insights into the Mechanisms Underlying Polyaminopathies.
Wu B et al.
International Journal of Molecular Sciences, 2024
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
VanSickle EA et al.
American Journal of Medical Genetics. Part A, 2021
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.
Rajasekaran S et al.
Elife, 2021
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
Rodan LH et al.
American Journal of Medical Genetics. Part A, 2018
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