Christmas Article: Case of Uncombable Hair Syndrome Discovered After Publication of Article in Ugeskrift for Læger

    Jakob Lillemoen Drivenes, I Vasilescu, Regina C. Betz, Anette; id_orcid 0000-0002-3004-0180 Bygum
    TLDR Digital access to medical info can help identify rare conditions.
    A 9-year-old boy was diagnosed with uncombable hair syndrome, a rare hair shaft anomaly, after his mother suspected the condition upon reading a medical paper. Molecular genetics confirmed the diagnosis. This case highlights how digital access to medical information can help patients and families identify rare conditions.
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