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Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

AuthorsToshifumi Nomura, Akihiro Yoneta, Elizabeth Pohler, Shotaro Suzuki, Rinko Osawa, Osamu Mizuno, Yuka Ohguchi, Yukiko Nomura, Toshiharu Yamashita, W H Irwin McLean, Hiroshi Shimizu
JournalActa dermato-venereologica (Acta Derm Venereol) Vol. 95 Issue 1 Pg. 110-1 (Jan 2015) ISSN: 1651-2057 [Electronic] Sweden
PMID24573067 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • AAGAB protein, human
  • Adaptor Proteins, Vesicular Transport
  • Keratolytic Agents
  • Etretinate
Topics
  • Adaptor Proteins, Vesicular Transport (genetics)
  • Aged, 80 and over
  • Biopsy
  • DNA Mutational Analysis
  • Etretinate (therapeutic use)
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Keratoderma, Palmoplantar (diagnosis, drug therapy, genetics)
  • Keratolytic Agents (therapeutic use)
  • Mutation
  • Phenotype
  • Remission Induction
  • Treatment Outcome

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