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This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.

A mutation in the KRT74 gene causes tightly curled hair.

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

A specific gene mutation causes woolly hair and hair loss.