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Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

We report a father and son affected by a hitherto unpublished bone dysplasia with moderately severe dwarfism. On initial radiographs, thickening of the diaphyses of the long bones was striking. The small bones of the extremities were almost unaffected. With age, the metaphyseal deformation became mo...

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Publicado no:J Med Genet
Principais autores: Verloes, A, Van Maldergem, L, de Marneffe, P, Dufier, J L, Maroteaux, P
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017188/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2395168/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.7.467
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