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Disease: Sacral meningocele conotruncal heart defects

  • Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome)
  • Cardiac arrest secondary to type 2 Kounis syndrome resulting from urticaria and angioedema
  • CITED2 Mutations in Conserved Regions Contribute to Conotruncal Heart Defects in Chinese Children
  • Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome
  • Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait
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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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