Hermansky-Pudlak syndrome type 4 with a novel mutation

J Dermatol. 2014 Feb;41(2):186-7. doi: 10.1111/1346-8138.12386. Epub 2014 Jan 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • DNA Mutational Analysis
  • Female
  • Guanine Nucleotide Exchange Factors
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Mutation
  • Proteins / genetics*

Substances

  • Guanine Nucleotide Exchange Factors
  • HPS4 protein, human
  • Proteins