Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities

    Lance H. Rodan, Kwame Anyane‐Yeboa, Karen Chong … Gerard T. Berry
    Studysummary This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
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    Research cited in this study 2

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