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This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.