Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

Grade III fetal bowel hyperechogenicity and/or loop dilatation observed at the second trimester of pregnancy can be due to several disease conditions, including cystic fibrosis (CF). Screening for frequent CF mutations is performed as a first step and, in certain situations, such as when a frequent...

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Detalhes bibliográficos
Main Authors: de Becdelièvre, Alix, Costa, Catherine, LeFloch, Annick, Legendre, Marie, Jouannic, Jean-Marie, Vigneron, Jacqueline, Bresson, Jean-Luc, Gobin, Stéphanie, Martin, Josiane, Goossens, Michel, Girodon, Emmanuelle
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987450/
https://ncbi.nlm.nih.gov/pubmed/20512161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.80
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