Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.

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Title: Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
Authors: Putotto C; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Masci M; Perinatal Cardiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Magliozzi M; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Marino B; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Digilio MC; Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Toscano A; Perinatal Cardiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Source: Birth defects research [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2382.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2472-1727
DOI:10.1002/bdr2.2382