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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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  Data: Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
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  Data: <searchLink fieldCode="AU" term="%22Putotto+C%22">Putotto C</searchLink>; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Masci+M%22">Masci M</searchLink>; Perinatal Cardiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Magliozzi+M%22">Magliozzi M</searchLink>; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Marino+B%22">Marino B</searchLink>; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Digilio+MC%22">Digilio MC</searchLink>; Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Toscano+A%22">Toscano A</searchLink>; Perinatal Cardiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101701004%22">Birth defects research</searchLink> [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2382.
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        Value: 10.1002/bdr2.2382
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              Text: 2024 Jul
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