Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome

Br J Haematol. 2012 Nov;159(4):480-2. doi: 10.1111/bjh.12032. Epub 2012 Aug 31.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Bone Marrow Diseases / blood*
  • Bone Marrow Diseases / genetics*
  • Bone Marrow Diseases / pathology
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 7 / genetics*
  • DNA Copy Number Variations
  • Exocrine Pancreatic Insufficiency / blood*
  • Exocrine Pancreatic Insufficiency / genetics*
  • Exocrine Pancreatic Insufficiency / pathology
  • Female
  • Hematopoiesis / physiology*
  • Humans
  • Infant
  • Lipomatosis / blood*
  • Lipomatosis / genetics*
  • Lipomatosis / pathology
  • Loss of Heterozygosity*
  • Shwachman-Diamond Syndrome