Albinism in a patient with mutations at both the OA1 and OCA3 loci

Pigment Cell Melanoma Res. 2016 Jan;29(1):107-9. doi: 10.1111/pcmr.12408. Epub 2015 Oct 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Albinism / genetics*
  • Chromosome Deletion
  • Eye Proteins / genetics*
  • Female
  • Genetic Loci*
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins / genetics*
  • Mutation / genetics*
  • Pedigree
  • Phenotype

Substances

  • Eye Proteins
  • GPR143 protein, human
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • OCA2 protein, human