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Disease: Isolated congenital asplenia (ICA)

  • Case report: Single-cell mapping of peripheral blood mononuclear cells from a patient with both Crohn's disease and isolated congenital asplenia
  • Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module
  • Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
  • Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <em>RPSA</em> exons
  • Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
  • Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases
  • Recurrent bacterial meningitis by three different pathogens in an isolated asplenic child
  • Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
  • Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review
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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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