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Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot
Authors:Anwar Baban  Alex Vincent Postma  Monica Marini  Gianluca Trocchio  Antonella Santilli  Monica Pelegrini  Pietro Sirleto  Margherita Lerone  Sonia Bernadette Albanese  Phil Barnett  Cornelis Job Boogerd  Bruno Dallapiccola  Maria Cristina Digilio  Roberto Ravazzolo  Giacomo Pongiglione
Affiliation:1. Department of Pediatric Cardiology and Cardiosurgery, Bambino Gesù Children Hospital, IRCCS, Rome, Italy;2. Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands;3. Laboratory of Molecular Genetics, Gaslini Children Hospital, Genoa, Italy;4. Cardiovascular and Cardiosurgical Department, Gaslini Children Hospital, Genoa, Italy;5. Unit of Medical Genetics and Cytogenetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy;6. Department of Pediatrics and Center of Excellence for Biomedical Research (CEBR), University of Genoa, Genoa, Italy
Abstract:
Keywords:Tetralogy of Fallot (TOF)  atrial septal defects  conduction defects  TBX5 mutations  gain‐of‐function mutation
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