Genetic Mapping of a Locus for Multiple Epiphyseal Dysplasia (EDM2) to a Region of Chromosome 1 Containing a Type IX Collagen Gene

Multiple epiphyseal dysplasia (MED) is a dominantly inherited chondrodysplasia characterized by mild short stature and early-onset osteoarthrosis. Some forms of MED clinically resemble another chondrodysplasia phenotype, the mild form of pseudoachondroplasia (PSACH). On the basis of their clinical s...

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Detalhes bibliográficos
Main Authors: Briggs, Michael D., Choi, HiChang, Warman, Matthew L., Loughlin, John A., Wordsworth, Paul, Sykes, Bryan C., Irven, Catherine M. M., Smith, Michael, Wynne-Davies, Ruth, Lipson, Mark H., Biesecker, Leslie G., Garber, Ann P., Lachman, Ralph, Olsen, Bjorn R., Rimoin, David L., Cohn, Daniel H.
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918298/
https://ncbi.nlm.nih.gov/pubmed/7942845
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