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

Am J Hematol. 2013 Feb;88(2):160. doi: 10.1002/ajh.23366.
No abstract available

Publication types

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

MeSH terms

  • Anemia, Diamond-Blackfan / embryology
  • Anemia, Diamond-Blackfan / genetics*
  • Anemia, Diamond-Blackfan / metabolism
  • Anemia, Diamond-Blackfan / physiopathology
  • Arm / abnormalities
  • Arm / embryology
  • Codon, Nonsense
  • Exons
  • Female
  • Fetal Death
  • Fetal Growth Retardation / etiology
  • Heterozygote
  • Humans
  • Hydrops Fetalis / etiology
  • Hydrops Fetalis / genetics*
  • Hydrops Fetalis / metabolism
  • Limb Deformities, Congenital / embryology
  • Limb Deformities, Congenital / etiology
  • Mutation*
  • Pregnancy
  • Ribosomal Proteins / genetics*
  • Ribosomal Proteins / metabolism

Substances

  • Codon, Nonsense
  • Ribosomal Proteins
  • ribosomal protein S19

Supplementary concepts

  • Arms, Malformation of