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  5. Skeletal dysplasia brachydactyly

Skeletal dysplasia brachydactyly

December 31, 2014

Latest Research

  • A child with a novel ACAN missense variant mimicking a septic arthritis
  • A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review
  • A new acro-osteolysis syndrome caused by duplications including PTHLH
  • A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B
  • A Novel <em>COMP</em> Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
More Research
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