Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism

Ophthalmic Genet. Mar-Apr 2017;38(2):194-196. doi: 10.1080/13816810.2016.1183217. Epub 2016 May 13.
No abstract available

Publication types

  • Letter

MeSH terms

  • Albinism, Oculocutaneous / diagnosis*
  • Albinism, Oculocutaneous / ethnology
  • Albinism, Oculocutaneous / genetics
  • Asian Continental Ancestry Group / ethnology
  • Biomarkers*
  • Carrier Proteins / genetics
  • Child
  • DNA Mutational Analysis
  • Female
  • Guanine Nucleotide Exchange Factors
  • Hermanski-Pudlak Syndrome / diagnosis*
  • Hermanski-Pudlak Syndrome / ethnology
  • Hermanski-Pudlak Syndrome / genetics
  • Humans
  • India / epidemiology
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Melanosis / diagnosis*
  • Membrane Proteins / genetics
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Proteins / genetics
  • Skin Pigmentation*

Substances

  • Biomarkers
  • Carrier Proteins
  • Guanine Nucleotide Exchange Factors
  • HPS1 protein, human
  • HPS3 protein, human
  • HPS4 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Proteins