First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia

Am J Hematol. 2013 Apr;88(4):340-1. doi: 10.1002/ajh.23429.
No abstract available

Publication types

  • Case Reports
  • Published Erratum

MeSH terms

  • Anemia, Diamond-Blackfan / embryology
  • Anemia, Diamond-Blackfan / genetics*
  • Female
  • Fetal Death
  • Humans
  • Hydrops Fetalis / genetics*
  • Mutation*
  • Pregnancy
  • Ribosomal Proteins / genetics*

Substances

  • Ribosomal Proteins
  • ribosomal protein S19