Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects

Birgit van Dooijeweert, C. Heleen van Ommen, Frans J. Smiers, Rienk Y. J. Tamminga, Maroeska W. te Loo, Albertine E. Donker, Marjolein Peters, Bernd Granzen, Hans J. J. P. Gille, Marc B. Bierings, Alyson W. MacInnes, Marije Bartels

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)163-170
Number of pages8
JournalEuropean Journal of Haematology
Volume100
Issue number2
DOIs
Publication statusPublished - 1 Feb 2018

Keywords

  • bone marrow failure
  • Diamond-Blackfan anemia
  • genotype-phenotype correlation
  • patient registry
  • ribosomopathy
  • STEM-CELL TRANSPLANTATION
  • MARROW FAILURE SYNDROMES
  • RIBOSOMAL-PROTEIN L5
  • RPL11 GENES
  • IN-VITRO
  • MUTATIONS
  • REGISTRY
  • RIBOSOMOPATHIES
  • ERYTHROPOIESIS
  • IDENTIFICATION

Cite this

van Dooijeweert, B., van Ommen, C. H., Smiers, F. J., Tamminga, R. Y. J., te Loo, M. W., Donker, A. E., Peters, M., Granzen, B., Gille, H. J. J. P., Bierings, M. B., MacInnes, A. W., & Bartels, M. (2018). Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects. European Journal of Haematology, 100(2), 163-170. https://doi.org/10.1111/ejh.12995