An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12

Haematologica. 2011 Oct;96(10):1567-8. doi: 10.3324/haematol.2010.036897. Epub 2011 Jul 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles
  • Base Sequence
  • Child, Preschool
  • Chromosomes, Human, Pair 12*
  • Female
  • Genotype
  • Hematologic Tests
  • Humans
  • Pedigree
  • Sequence Deletion
  • Uniparental Disomy*
  • von Willebrand Disease, Type 3 / diagnosis
  • von Willebrand Disease, Type 3 / genetics*