Article
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
Nature genetics - 1 Aug 1997
Winter H, Rogers M A, Langbein L, Stevens H P, Leigh I M, Labrèze C, Roul S, Taieb A, Krieg T, Schweizer J
Abstract excerpt
Pathogenic mutations in a large number of human epithelial keratins have been well characterized. However, analogous mutations in the hard alpha-keratins of hair and nail have not yet been described. Monilethrix is a rare autosomal dominant hair defect with variable expression. Hairs from affected individuals show a beaded structure of alternating elliptical nodes and constrictions (internodes). These internodes...
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