Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation

J Eur Acad Dermatol Venereol. 2019 May;33(5):e219-e221. doi: 10.1111/jdv.15405. Epub 2019 Feb 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alopecia / complications
  • Alopecia / genetics*
  • Child
  • Connexin 43 / genetics*
  • Female
  • Humans
  • Hyperostosis / complications
  • Hyperostosis / genetics*
  • Keratoderma, Palmoplantar / complications
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Mutation
  • Phenotype

Substances

  • Connexin 43
  • GJA1 protein, human