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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Anderson, I J, Goldberg, R B, Marion, R W, Upholt, W B, Tsipouras, P
Formato: Artigo
Idioma:Inglês
Publicado: 1990
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683599/
https://ncbi.nlm.nih.gov/pubmed/1971141
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares