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

    May 2019 in “ PLOS genetics
    Prashant Sharma, Marie C. Reichert, Yan Lu, Thomas C. Markello, David R. Adams, Peter Steinbach, Brie K. Fuqua, Xenia Parisi, Stephen G. Kaler, Christopher D. Vulpe, Gregory J. Anderson, William A. Gahl, May Christine V. Malicdan
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    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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