Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.

@article{Djabali2003RecurrentMM,
  title={Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.},
  author={Karima Djabali and Andrey A Panteleyev and T Lalin and Mar{\'i}a Consuelo Garz{\'o}n and B. Jack Longley and David R. Bickers and Abraham Zlotogorski and Angela M. Christiano},
  journal={Clinical and experimental dermatology},
  year={2003},
  volume={28 2},
  pages={206-10}
}
Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair resulting from periodic thinning of the shaft (MIM 158000). The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations of the helix-encoded region in two hair-specific keratins (hHb1 and hHb6) have been… CONTINUE READING