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A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive i...

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Autors principals: Young, I D, Zuccollo, J M, Broderick, N J
Format: Artigo
Idioma:Inglês
Publicat: 1993
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016275/
https://ncbi.nlm.nih.gov/pubmed/8445622
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