Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

J Med Genet. 2000 May;37(5):392-4. doi: 10.1136/jmg.37.5.392.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Albinism, Oculocutaneous / genetics*
  • Angelman Syndrome / genetics*
  • Child
  • Chromosomes, Human, Pair 15
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Mutation, Missense*