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Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.

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Title: Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.
Authors: Mastromoro G; Department of Experimental Medicine, Sapienza University, Rome, Italy.; Laboratory Science, Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy., Traversa A; Department of Experimental Medicine, Sapienza University, Rome, Italy.; Department of Life Sciences, Health and Health Professions, Link Campus University, Rome, Italy., Guadagnolo D; Department of Experimental Medicine, Sapienza University, Rome, Italy., Putotto C; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Caputo V; Department of Experimental Medicine, Sapienza University, Rome, Italy., Gnazzo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, Rome, Italy., Ventriglia F; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Marino B; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Pizzuti A; Department of Experimental Medicine, Sapienza University, Rome, Italy.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64200. Date of Electronic Publication: 2025 Jul 28.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.
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  Data: <searchLink fieldCode="AU" term="%22Mastromoro+G%22">Mastromoro G</searchLink>; Department of Experimental Medicine, Sapienza University, Rome, Italy.; Laboratory Science, Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Traversa+A%22">Traversa A</searchLink>; Department of Experimental Medicine, Sapienza University, Rome, Italy.; Department of Life Sciences, Health and Health Professions, Link Campus University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Guadagnolo+D%22">Guadagnolo D</searchLink>; Department of Experimental Medicine, Sapienza University, Rome, Italy.<br /><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="%22Caputo+V%22">Caputo V</searchLink>; Department of Experimental Medicine, Sapienza University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Gnazzo+M%22">Gnazzo M</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ventriglia+F%22">Ventriglia F</searchLink>; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 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="%22Pizzuti+A%22">Pizzuti A</searchLink>; Department of Experimental Medicine, Sapienza University, Rome, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64200. <i>Date of Electronic Publication: </i>2025 Jul 28.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.64200
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              Text: 2025 Dec
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