Afrin A et al. Improvement of dermatological symptoms in patients with Bachmann-Bupp syndrome using difluoromethylornithine treatment. Pediatric Dermatology. 2022;10.1111/pde.15187. PMID: 36443247.
Bupp CP et al. Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. Am J Med Genet A. 2018; 176(12):2548-2553. PMID: 30239107.
Michael J et al. Two new cases of Bachmann-Bupp syndrome identified through the International Center for Polyamine Disorders. Medical Sciences. 2023; 11(2):29. PMID: 37092498.
Prokop JW et al. Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development. Genes. 2021; 12(4):470. PMID: 33806076.
Rajasekaran S et al. Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease. eLife. 2021; 10:e67097. PMID: 34282722.
Schultz CR et al. Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation. Biochem J. 2019; 476(14):2047-2057. PMID: 31249027.
VanSickle EA et al. Expanding the phenotype – four new cases and hope for treatment in Bachmann-Bupp Syndrome. Am J Med Genet A. 2021;185(11):3485-3493. PMID: 34477286.
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