Case of Hermansky-Pudlak syndrome 1 in a Japanese infant

J Dermatol. 2015 Sep;42(9):906-7. doi: 10.1111/1346-8138.12937. Epub 2015 May 19.
No abstract available

Publication types

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

MeSH terms

  • Hermanski-Pudlak Syndrome / genetics*
  • Hermanski-Pudlak Syndrome / pathology
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Skin / pathology
  • Skin / ultrastructure

Substances

  • HPS1 protein, human
  • Membrane Proteins