A novel NOTCH1 missense variant in two fetuses with a nonâsyndromic conotruncal heart defect from a single family
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DOI: 10.1002/pd.6290
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… read more here.
Keywords: family; two fetuses; defect; conotruncal heart ... See more keywords