Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype

J Invest Dermatol. 2007 Nov;127(11):2674-7. doi: 10.1038/sj.jid.5700899. Epub 2007 May 31.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Age of Onset
  • Blood Platelets / pathology
  • Chediak-Higashi Syndrome / genetics*
  • Chediak-Higashi Syndrome / pathology*
  • Fibroblasts / pathology
  • Genotype*
  • Humans
  • Male
  • Mutation / genetics
  • Neutrophils / pathology
  • Phenotype*
  • Vesicular Transport Proteins / genetics

Substances

  • LYST protein, human
  • Vesicular Transport Proteins