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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Autors principals: Anderson, I J, Goldberg, R B, Marion, R W, Upholt, W B, Tsipouras, P
Format: Artigo
Idioma:Inglês
Publicat: 1990
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683599/
https://ncbi.nlm.nih.gov/pubmed/1971141
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