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. 1991 Mar;48(3):518–524.

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

C Sher 1, R Ramesar 1, R Martell 1, I Learmonth 1, P Tsipouras 1, P Beighton 1
PMCID: PMC1682978  PMID: 1671807

Abstract

Namaqualand spondyloepiphyseal dysplasia (NSED) is a mild autosomal dominant form of spondyloepiphyseal dysplasia in which changes are maximal in the femoral capital epiphyses and the vertebral bodies. The condition is present in a large multigeneration South African family, and it is clinically important by virtue of severe progressive degenerative osteoarthropathy of the hip joint, which frequently necessitates prosthetic joint replacement in adulthood. Linkage studies using molecular markers have shown that the loci for the NSED and type II collagen genes are linked (LOD score 7.98 at a recombination fraction of .00).

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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