Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features

    September 2018 in “ American Journal of Medical Genetics Part A ”
    Caleb Bupp, Chad R. Schultz, Katie Uhl … André S. Bachmann
    Studysummary 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.
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    Research cited in this study 1

    1. Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity Journal of Investigative Dermatology · 1996