Article
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
Clinical and experimental dermatology - 1 Oct 2015
Redler S, Pasternack S M, Wolf S, Stienen D, Wenzel J, Nöthen M M, Betz R C
Abstract excerpt
BACKGROUND: Monilethrix is a rare monogenic dystrophic hair loss disorder with high levels of intrafamilial and interfamilial variability. It is characterized by diffuse occipital or temporal alopecia, hair fragility and follicular hyperkeratosis of the occipital region. Mutations in the keratin genes KRT81, KRT83 and KRT86 lead to autosomal dominant monilethrix, whereas mutations in the desmoglein 4 gene (DSG4)...
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