Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer

Acta Derm Venereol. 2019 Jun 1;99(7):699-700. doi: 10.2340/00015555-3189.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Asian People / genetics
  • China
  • Esophageal Neoplasms / diagnosis
  • Esophageal Neoplasms / genetics*
  • Esophageal Neoplasms / pathology
  • Exome Sequencing
  • Genetic Predisposition to Disease*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Middle Aged
  • Mutation / genetics
  • Pedigree
  • Rare Diseases

Substances

  • Intracellular Signaling Peptides and Proteins
  • RHBDF2 protein, human

Supplementary concepts

  • Keratosis palmoplantaris with esophageal cancer