The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

PURPOSE: Congenital heart defects (CHD) are associated with genetic syndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) are standard care in fetal CHD. Many genetic syndromes remain undetected with these tests. This cohort study aims to estimate the frequency of causal genet...

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Detaylı Bibliyografya
Yayımlandı:Genet Med
Asıl Yazarlar: van Nisselrooij, Amber E. L., Lugthart, Malou A., Clur, Sally-Ann, Linskens, Ingeborg H., Pajkrt, Eva, Rammeloo, Lukas A., Rozendaal, Lieke, Blom, Nico A., van Lith, Jan M. M., Knegt, Alida C., Hoffer, Mariëtte J. V., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group US 2020
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7332415/
https://ncbi.nlm.nih.gov/pubmed/32341573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0791-8
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