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COL9A3: A third locus for multiple epiphyseal dysplasia.

Multiple epiphyseal dysplasia (MED), an autosomal dominant osteochondrodysplasia, is a clinically and genetically heterogeneous disorder characterized by mild short stature and early-onset osteoarthritis. The phenotypic spectrum includes the mild Ribbing type, the more severe Fairbank type, and some...

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Autors principals: Paassilta, P, Lohiniva, J, Annunen, S, Bonaventure, J, Le Merrer, M, Pai, L, Ala-Kokko, L
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377827/
https://ncbi.nlm.nih.gov/pubmed/10090888
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