A new SPINK5 donor splice site mutation in siblings with Netherton syndrome

Acta Derm Venereol. 2010;90(1):95-6. doi: 10.2340/00015555-0769.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation*
  • Netherton Syndrome / genetics*
  • Netherton Syndrome / pathology
  • Pedigree
  • Phenotype
  • Proteinase Inhibitory Proteins, Secretory / genetics*
  • RNA Splice Sites*
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Skin / pathology
  • Turkey

Substances

  • Proteinase Inhibitory Proteins, Secretory
  • RNA Splice Sites
  • SPINK5 protein, human
  • Serine Peptidase Inhibitor Kazal-Type 5