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Disease: Metaphyseal chondrodysplasia Spahr type

  • A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes
  • Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype
  • Endothelium-Dependent Vasorelaxant Effect of <em>Prunus Persica</em> Branch on Isolated Rat Thoracic Aorta
  • Metaphyseal chondrodysplasia as differential diagnosis to rickets
  • Metaphyseal dysplasia, Spahr type: a mimicker of rickets
  • The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed
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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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