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

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 imp...

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Detaylı Bibliyografya
Asıl Yazarlar: Sher, C, Ramesar, R, Martell, R, Learmonth, I, Tsipouras, P, Beighton, P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1991
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682978/
https://ncbi.nlm.nih.gov/pubmed/1671807
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