Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses wit...
Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies
About this item
Full title
Author / Creator
Publisher
Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
Nature Publishing Group
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Scope and Contents
Contents
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, e.g. when a frequent CF mutation is found in the fetus, the increased risk...
Alternative Titles
Full title
Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies
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Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_00540040v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00540040v1
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2010.80
