Article

First diagnosis of fetal SETD5 mutation during pregnancy，demonstrating an association with congenital heart disease

2024-06-27

Abstract excerpt

<title>Abstract</title> <p>Background Mutations in the <italic>SETD5</italic> gene lead to the autosomal dominant disorder termed Mental retardation type 23. Limited clinical reports have made it challenging to comprehensively delineate the clinical outcomes and mutation spectrum associated with this gene. Case presentation: In this study, a fetal case presenting an ostium primum atrial septal defect, a presume...

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Literature Corpus work: afbc29e3-eae8-55aa-9085-a1255d1e2b67
DOI: 10.21203/rs.3.rs-4542929/v1

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