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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.

Iron deficiency causes hair loss by affecting hair differentiation and cycling.

This study found that knockout mice lacking intestinal hephaestin are smaller and anemic compared to wild-type, suggesting other mechanisms may compensate for iron absorption.

This study found that maternal hephaestin knockout in mice leads to neonatal hair loss, likely due to low iron levels in the mother's milk.

This study reviews iron metabolism in the skin, highlighting how differentially expressed genes regulate iron recycling in the epidermis, and discusses changes in iron metabolism related to skin diseases.