A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e217-e219. doi: 10.1111/jdv.13549. Epub 2016 Feb 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Cardiomyopathies / genetics*
  • Cardiomyopathy, Dilated
  • Dental Enamel Hypoplasia / genetics*
  • Desmoplakins / genetics*
  • Hair Diseases / genetics*
  • Heterozygote*
  • Humans
  • Keratoderma, Palmoplantar / genetics*
  • Lebanon
  • Male
  • Mutation*

Substances

  • Desmoplakins

Supplementary concepts

  • Cardiomyopathy dilated with woolly hair and keratoderma