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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Bibliographic Details
Published in:Clin Case Rep
Main Authors: Gerbrands, Lonneke C., Haarman, Eric G., Hankel, Margot A., Finken, Martijn J. J.
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2017
Subjects:
Case Reports
Online Access: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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