Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality

Pediatr Blood Cancer. 2018 Jun;65(6):e26959. doi: 10.1002/pbc.26959. Epub 2018 Jan 22.
No abstract available

Publication types

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

MeSH terms

  • Anemia, Aplastic / congenital
  • Anemia, Aplastic / genetics*
  • Anemia, Aplastic / pathology*
  • Bone Development / genetics*
  • Bone Marrow Diseases / congenital
  • Bone Marrow Diseases / genetics*
  • Bone Marrow Diseases / pathology*
  • Bone Marrow Failure Disorders
  • Female
  • Germ-Line Mutation*
  • Hemoglobinuria, Paroxysmal / congenital
  • Hemoglobinuria, Paroxysmal / genetics*
  • Hemoglobinuria, Paroxysmal / pathology*
  • Humans
  • Infant, Newborn
  • MDS1 and EVI1 Complex Locus Protein / genetics*
  • Mosaicism*
  • Prognosis

Substances

  • MDS1 and EVI1 Complex Locus Protein
  • MECOM protein, human