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

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...

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Bibliografische gegevens
Hoofdauteurs: Anderson, I J, Goldberg, R B, Marion, R W, Upholt, W B, Tsipouras, P
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1990
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683599/
https://ncbi.nlm.nih.gov/pubmed/1971141
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