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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Hlavní autoři: Anderson, I J, Goldberg, R B, Marion, R W, Upholt, W B, Tsipouras, P
Médium: Artigo
Jazyk:Inglês
Vydáno: 1990
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683599/
https://ncbi.nlm.nih.gov/pubmed/1971141
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