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  3. Research By Disease

Disease: Platyspondyly amelogenesis imperfecta

  • A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
  • A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report
  • A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in <em>LTBP3</em>
  • A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3
  • Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients
  • Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice
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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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