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First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

Background. Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often elusive and the resulting inability...

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Bibliografiska uppgifter
I publikationen:PeerJ
Huvudupphovsmän: Pangalos, Constantinos, Hagnefelt, Birgitta, Lilakos, Konstantinos, Konialis, Christopher
Materialtyp: Artigo
Språk:Inglês
Publicerad: PeerJ Inc. 2016
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4860337/
https://ncbi.nlm.nih.gov/pubmed/27168972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.1955
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