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Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Baban, Anwar; Cicenia, Marianna; Magliozzi, Monia; Parlapiano, Giovanni; Cirillo, Marco; Pascolini, Giulia; Fattori, Fabiana; Gnazzo, Maria; Bruno, Pasqualina; De Luca, Lorenzo; Di Chiara, Luca; Francalanci, Paola; Udd, Bjarne; Secinaro, Aurelio; Amodeo, Antonio; Bertini, Enrico Silvio; Savarese, Marco; Drago, Fabrizio; Novelli, Antonio.
Afiliação
  • Baban A; Pediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cicenia M; Pediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Magliozzi M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Parlapiano G; Pediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cirillo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Pascolini G; Department of Imaging, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Fattori F; Pediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Gnazzo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bruno P; Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • De Luca L; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome, Italy.
  • Di Chiara L; Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Francalanci P; Pediatric Cardiology and Arrhythmia/Syncope Complex Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Udd B; Pediatric Cardiac Intensive Care Unit, Department of Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Secinaro A; Department of Pathology, Bambino Gesù Children's Hospital and Research Institute, IRCCS, Rome, Italy.
  • Amodeo A; Folkhälsan Research Center, Helsinki, Finland.
  • Bertini ES; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Savarese M; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
  • Drago F; Advanced Cardiothoracic Imaging Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Novelli A; Heart Failure and Transplant, Mechanical Circulatory Support Complex Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Front Cardiovasc Med ; 10: 1210378, 2023.
Article em En | MEDLINE | ID: mdl-37576110
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article