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Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7

If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver–Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small‐for‐gestational‐age birth.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Gerbrands, Lonneke C., Haarman, Eric G., Hankel, Margot A., Finken, Martijn J. J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5628200/
https://ncbi.nlm.nih.gov/pubmed/29026575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1061
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