Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3

J Dermatol. 2020 Jan;47(1):e18-e20. doi: 10.1111/1346-8138.15118. Epub 2019 Oct 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Asian People
  • Genetic Testing
  • Hermanski-Pudlak Syndrome / classification
  • Hermanski-Pudlak Syndrome / complications
  • Hermanski-Pudlak Syndrome / diagnosis*
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Hypopigmentation / diagnosis
  • Hypopigmentation / etiology
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation

Substances

  • HPS3 protein, human
  • Intracellular Signaling Peptides and Proteins