Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome

    Elizabeth VanSickle, Julianne Michael, André S. Bachmann … Caleb Bupp
    Studysummary 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.
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    Research cited in this study 5

    1. Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome American Journal of Medical Genetics Part A · 2021
    2. Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation Biochemical Journal · 2019
    3. Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities American Journal of Medical Genetics Part A · 2018
    4. Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features American Journal of Medical Genetics Part A · 2018
    5. Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity Journal of Investigative Dermatology · 1996