Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
May 2019
in “
PLOS genetics
”
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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