Associated Papers
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
Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation.
Schultz CR et al.
The Biochemical Journal, 2019
Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features.
Bupp CP et al.
American Journal of Medical Genetics. Part A, 2018
Improvement of dermatological symptoms in patients with Bachmann-Bupp syndrome using difluoromethylornithine treatment.
Afrin A et al.
Pediatric Dermatology, 0
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