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Journal Information
Vol. 7. Issue 4.
Pages 267-268 (July - August 2011)
Vol. 7. Issue 4.
Pages 267-268 (July - August 2011)
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Spondyloepiphiseal dysplasia in a middle aged male
Displasia espondiloepifisiaria tarda en varón de edad media
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References
[1.]
S. Heuertz, M. Nelen, A.O.M. Wilkie.
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.
Genomics, 18 (1993), pp. 100-104
[2.]
J. Bleasel, A. Bisagni-Faure.
Type II procollagen gene (COL2A1) mutation in exon 11 assocated with spondyloepiphyseal dysplasia, tall stature and precocious ostearthritis.
J Rheumatol, 22 (1995), pp. 255-261
[3.]
M. Deere, S. Blanton, C. Scott.
Genetic heterogeneity in multiple epiphyseal dysplasia.
Am J Hum Genet, 56 (1995), pp. 698-704
[4.]
F. Hedden.
Spondyloepiphyseal dysplasia.
J Bone Joint Surg, 60B (1978), pp. 295
[5.]
A.K. Gedeon, A. Colley, R. Jamieson.
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
Nat Genet, 22 (1999), pp. 400-404
[6.]
D.O. Sillence.
Displasias esqueléticas congénitas.
Nelson. Tratado de Pediatría, pp. 1469-1485
[7.]
M. Hamza, T. Bardin.
Camptodactyly, polyepipheseal and mixed crystal deposition disease.
J Rheumatol, 16 (1989), pp. 1153-1158
[8.]
P.N. Sambrook, J.P. De Jager, G.D. Champion.
Synovial complications of spondiloephiphyseal dysplasia of late onset.
Arthrtis Rheum, 31 (1988), pp. 282-287
[9.]
S. Bal, H. Kocyigit, Y. Turan.
Spondyloepiphyseal dysplasia tarda;four cases from two families.
Rheumatol Int, 29 (2009), pp. 699-702
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