Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia

Int J Cardiol. 2012 Nov 1;161(1):50-2. doi: 10.1016/j.ijcard.2012.06.068. Epub 2012 Jul 12.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anodontia / complications
  • Anodontia / diagnosis
  • Anodontia / genetics*
  • Cardiomyopathies / complications
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Cardiomyopathy, Dilated
  • Child
  • Desmoplakins / genetics*
  • Genes, Dominant*
  • Hair Diseases / complications
  • Hair Diseases / diagnosis
  • Hair Diseases / genetics*
  • Humans
  • Hypopigmentation / complications
  • Hypopigmentation / diagnosis
  • Hypopigmentation / genetics*
  • Keratoderma, Palmoplantar / complications
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Mutation / genetics*
  • Nail Diseases / complications
  • Nail Diseases / congenital*
  • Nail Diseases / diagnosis
  • Nail Diseases / genetics
  • Phenotype*

Substances

  • Desmoplakins

Supplementary concepts

  • Cardiomyopathy dilated with woolly hair and keratoderma
  • Leukonychia totalis