A novel NOTCH1 missense variant in two fetuses with a non‐syndromic conotruncal heart defect from a single family
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
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
Discovery and functional characterization of the oncogenicity and targetability of a novel NOTCH1–ROS1 gene fusion in pediatric angiosarcoma
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006222
Abstract: Angiosarcomas are rare, malignant soft tissue tumors in children that arise in a wide range of anatomical locations and have limited targeted therapies available. Here, we report a rare case of a pediatric angiosarcoma (pAS)… read more here.
Keywords: notch1 ros1; fusion; pediatric angiosarcoma; novel notch1 ... See more keywords