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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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Publicat a:PeerJ
Autors principals: Pangalos, Constantinos, Hagnefelt, Birgitta, Lilakos, Konstantinos, Konialis, Christopher
Format: Artigo
Idioma:Inglês
Publicat: PeerJ Inc. 2016
Matèries:
Accés en línia: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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