"Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management"

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The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. Click to show full abstract

The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.

Keywords: exome sequencing; diagnosis; prenatal diagnosis; trio exome; medical trio; skeletal dysplasia

Journal Title: Prenatal Diagnosis
Year Published: 2020

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