Journal Information
Vol. 7. Issue 2.
Pages 83-84 (March - April 2011)
Vol. 7. Issue 2.
Pages 83-84 (March - April 2011)
Editorial
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Classification of constitutional disorders of bone: a new perspective
Clasificación de las enfermedades constitucionales del hueso: lo que va de ayer a hoy
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Antonio Morales Piga
, Manuel Posada de la Paz
Corresponding author
Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain
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References
[1.]
D. Krakow, D.L. Rimoin.
The skeletal dysplasias.
Genet Med, 12 (2010), pp. 327-341
[2.]
V.A. McKusick, C.I. Scott.
A nomenclature for constitutional disorders of bone.
J Bone Joint Surg (Am), 53 (1971), pp. 978-986
[3.]
International Working Group on Constitutional Diseases of Bone.
International nomenclature of constitutional disorders of bone.
J Pediat, 93 (1978), pp. 614-616
[4.]
International Working Group on Constitutional Diseases of Bone.
International nomenclature of constitutional diseases of bone.
Ann Radiol (Paris), 26 (1983), pp. 457-462
[5.]
International Working Group on Constitutional Diseases of Bone.
International classification of osteochondrodysplasias.
Am J Med Genet, 44 (1992), pp. 223-229
[6.]
International Working Group on Constitutional Diseases of Bone.
International nomenclature and classification of osteochondrodysplasias (1997).
Am J Med Genet, 79 (1998), pp. 376-382
[7.]
C. Hall, International Nosology, Classification of Constitutional Disorders of Bone (2001).
Am J Med Genet, 113 (2002), pp. 65-77
[8.]
A. Superti-Furga, S. Unger, the Nosology Group of the International Skeletal Dysplasia Society.
Nosology and classification of genetic skeletal disorders: 2006 revision.
Am J Med Genet, 143A (2007), pp. 1-18
[9.]
K. Keegan, L. Rooke, M. Hayman, N.K. Spurr, J.C. Landais, A. Pelet, Bonaventure J.
The fibroblast growth factor receptor 3 gene (FGFR3) is assigned to human chromosome 4.
Cytogen Cell Genet, 62 (1993), pp. 172-175
[10.]
M. Le Merrer, F. Rousseau, L. Legeai-Mallet, J.C. Landais, A. Pelet, J. Bonaventure, et al.
A gene for acondroplasia-hypocondroplasia maps to chromosome 4p.
Nat Genet, 6 (1994), pp. 318-321
[11.]
M. Velinov, S.A. Slaugenhaupt, I. Stoilov, C.I. Scott, J.F. Gusella, P. Tsipouras.
The gene for acondroplasia maps to the telomeric region of chromosome 4p.
Nat Genet, 6 (1994), pp. 314-317
[12.]
G.A. Bellus, I. McIntosh, A.E. Smith, A.S. Aylsworth, I. Kaitila, W.A. Horton, et al.
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypocondroplasia.
Nat Genet, 10 (1995), pp. 357-359
[13.]
A.O. Wilkie.
Craniosynostosis: genes and mechanisms.
Hum Mol Genet, 6 (1997), pp. 1647-1656
[14.]
M.R. Passos-Bueno, W.R. Wilcox, E.W. Jabs, A.L. Sertie, L.G. Alonso, H. Kitoh.
Clinical spectrum of fibroblast growth factor receptor mutations.
Hum Mutat, 14 (1999), pp. 115-125
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