Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia

Blood. 2013 Dec 19;122(26):4289-91. doi: 10.1182/blood-2013-09-528943.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, Pair 17 / genetics*
  • Haplotypes
  • Homozygote
  • Humans
  • Kartagener Syndrome / genetics*
  • Male
  • Pedigree
  • Thrombasthenia / genetics*