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A novel NOTCH1 missense variant in two fetuses with a non‐syndromic conotruncal heart defect from a single family

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We describe two fetuses with conotruncal heart defects (CTDs) (persistent truncus arteriosus and pulmonary atresia/ventricular septal defect, respectively) in a Chinese family whose parents were both healthy. Testing was performed… Click to show full abstract

We describe two fetuses with conotruncal heart defects (CTDs) (persistent truncus arteriosus and pulmonary atresia/ventricular septal defect, respectively) in a Chinese family whose parents were both healthy. Testing was performed to identify any underlying genetic cause.

Keywords: family; two fetuses; defect; conotruncal heart; novel notch1

Journal Title: Prenatal Diagnosis
Year Published: 2022

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