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  5. Microcephaly developmental delay pancytopenia

Microcephaly developmental delay pancytopenia

December 31, 2014

Latest Research

  • A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay
  • A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
  • Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency
  • Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
  • Fanconi Anemia
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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