X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.

X linked spondyloepiphyseal dysplasia (SEDT) is a rare disorder characterised by disproportionate short stature and degenerative changes in the spine and hips. We report a large kindred with 11 affected males and 17 obligate carrier females. We examined clinically and radiographically the seven livi...

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Detalhes bibliográficos
Main Authors: MacKenzie, J J, Fitzpatrick, J, Babyn, P, Ferrero, G B, Ballabio, A, Billingsley, G, Bulman, D E, Strasberg, P, Ray, P N, Costa, T
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050760/
https://ncbi.nlm.nih.gov/pubmed/8933334
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