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Journal article

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Abstract:

Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous disorder with marked clinical and radiographic variability. Traditionally, the mild "Ribbing" and severe "Fairbank" types have been used to define a broad phenotypic spectrum. Mutations in the gene encoding cartilage oligomeric-matrix protein have been shown to result in several types of MED, whereas mutations in the gene encoding the alpha2 chain of type IX collagen (COL9A2) have so far been found only in two families with th...

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Publication status:
Published

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Publisher copy:
10.1086/302440

Authors


Mortier, GR More by this author
Spranger, J More by this author
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Journal:
American journal of human genetics
Volume:
65
Issue:
1
Pages:
31-38
Publication date:
1999-07-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:b9ef7061-dd28-46e6-ba51-eec7f259f043
Source identifiers:
107344
Local pid:
pubs:107344

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