Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency
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DOI: 10.1002/pd.5789
Abstract: The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first‐trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling. read more here.
Keywords: exome sequencing; diagnosis; sequencing improves; nuchal translucency ... See more keywords