A new type of syndromic albinism associated with mutations in AP3D1

Pigment Cell Melanoma Res. 2017 Jan;30(1):5-7. doi: 10.1111/pcmr.12543. Epub 2016 Nov 30.
No abstract available

Publication types

  • News
  • Comment

MeSH terms

  • Adaptor Protein Complex 3
  • Adaptor Protein Complex delta Subunits
  • Albinism*
  • Albinism, Oculocutaneous
  • Humans
  • Mutation*
  • Syndrome

Substances

  • AP3D1 protein, human
  • Adaptor Protein Complex 3
  • Adaptor Protein Complex delta Subunits