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Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Abstract:

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 similarities as well as similar ultrastructural and biochemical features in cartilage from some patients, it has been proposed that MED and PSACH belong to a single bone-dysplasia family. Recently, ...

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Publication status:
Published

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Authors


Briggs, MD More by this author
Warman, ML More by this author
Loughlin, JA More by this author
Wordsworth, P More by this author
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Journal:
American journal of human genetics
Volume:
55
Issue:
4
Pages:
678-684
Publication date:
1994-10-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:f1b4eed0-b0b7-4c2a-9a99-94daa5677d96
Source identifiers:
108691
Local pid:
pubs:108691

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