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

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Bibliographic Details
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
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.64200