Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.

نویسندگان

  • G Grimberg
  • I Hausser
  • F B Müller
  • K Wodecki
  • C Schaffrath
  • T Krieg
  • V Oji
  • H Traupe
  • M J Arin
چکیده

Palmoplantar keratodermas (PPKs) are a large group of disorders characterized by hyperkeratosis of palms and soles. They can be classified by their mode of inheritance, the morphology and distribution of the hyperkeratosis (diffuse, focal or punctate), the involvement of other ectodermal structures, the presence or absence of associated nonectodermal features and the morphological findings at light and electron microscopic levels. Mutations in a variety of proteins are associated

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عنوان ژورنال:
  • The British journal of dermatology

دوره 160 2  شماره 

صفحات  -

تاریخ انتشار 2009