Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene

Acta Derm Venereol. 2019 Nov 1;99(12):1192-1194. doi: 10.2340/00015555-3291.
No abstract available

Keywords: GJB2; deafness; mucocutaneous; palmoplantar keratoderma; syndrome; Connexin 26.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Connexin 26
  • Connexins / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Mutation*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Skin / pathology*
  • Syndrome

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26

Supplementary concepts

  • Palmoplantar Keratoderma with Deafness