Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype

    May 2019 in “ PLOS genetics ”
    Prashant Sharma, Marie C. Reichert, Yan Lu … May Christine V. Malicdan
    Studysummary This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
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    Research cited in this study 1

    1. Pathogenesis in Pili Torti: Morphological Study Journal of Dermatological Science · 1994