Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese

J Dermatol. 2014 Mar;41(3):268-70. doi: 10.1111/1346-8138.12390. Epub 2014 Jan 31.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Asian People
  • Female
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Infant
  • Membrane Proteins / genetics*
  • Phenotype

Substances

  • HPS1 protein, human
  • Membrane Proteins