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This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.