A novel NOTCH1 missense variant in two fetuses with a nonâsyndromic 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
Abnormal Biomarkers of Homocysteine Metabolism in Neonates with Conotruncal Heart Defects
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DOI: 10.1155/2017/7404397
Abstract: Objectives The etiology of conotruncal heart defects (CHD) remains unknown; however relation between homocysteine, folate levels, and congenital heart disease was found. With this perspective in mind, the aim of the study was to investigate… read more here.
Keywords: heart; metabolism; mothers neonates; neonates chd ... See more keywords
Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12050655
Abstract: There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are… read more here.
Keywords: cytoskeletal genes; associated conotruncal; gene; heart defects ... See more keywords