Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

@article{Anderson1990SpondyloepiphysealDC,
  title={Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).},
  author={Ian Jock F Anderson and Robert Bruce Goldberg and Robert W. Marion and William B. Upholt and Petros Tsipouras},
  journal={American journal of human genetics},
  year={1990},
  volume={46 5},
  pages={
          896-901
        }
}
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Manifestations are present at birth. We ascertained a 4-generation family exhibiting the clinical manifestations of the disorder. Previous evidence suggesting defects of type II collagen associated with the SEDC phenotype led us to genotype the family for various COL2A1 gene… CONTINUE READING

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