Image

    Bachmann–Bupp Syndrome and Treatment

    André S. Bachmann, Elizabeth VanSickle, Julianne Michael … Caleb Bupp
    Studysummary This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on onlinelibrary.wiley.com →
    Discuss this study in the Community →

    Research cited in this study 7

    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. Medical Treatment of Hirsutism Dermatologic therapy · 2008
    6. Ornithine Decarboxylase Overexpression Is a Sufficient Condition for Tumor Promotion in Mouse Skin PubMed · 1997
    7. Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity Journal of Investigative Dermatology · 1996