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Disease: Angel shaped phalangoepiphyseal dysplasia

  • A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum
  • A seasonal sign: angel-shaped phalango-epiphyseal dysplasia
  • Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker
  • Angel-shaped phalango-epiphyseal dysplasia: case report
  • The 6th ASPED-ISPAD Diabetes Academy
  • The 6th ASPED-ISPAD Diabetes Academy. 11-12 October 2022, Sheikh Shakhbout Medical City Abu Dhabi - United Arab Emirates
  • Total hip arthroplasty for a patient with angel-shaped phalango-epiphyseal dysplasia (ASPED). A case report
  • Touched by an angel
  • Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia
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About CheckOrphan

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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