Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.

An infant who died of complications of osteogenesis imperfecta (OI) at 22 days of age had a 46,XY,inv(7)(p13q22) karyotype. His mother carried the same inversion. One breakpoint of the inversion was within the region of the gene for alpha 2(I) procollagen. The product of this gene is a component of...

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Bibliographic Details
Main Authors: Knisely, A S, Richardson, A, Abuelo, D, Casey, S, Singer, D B
Format: Artigo
Language:Inglês
Published: 1988
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050466/
https://ncbi.nlm.nih.gov/pubmed/3385745
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