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SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban, Anwar; Olivini, Nicole; Lepri, Francesca Romana; Calì, Federica; Mucciolo, Mafalda; Digilio, Maria C; Calcagni, Giulio; di Mambro, Corrado; Dallapiccola, Bruno; Adorisio, Rachele; Novelli, Antonio; Drago, Fabrizio.
Afiliação
  • Baban A; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Olivini N; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Lepri FR; Medical Genetics Laboratory, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Calì F; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Mucciolo M; Medical Genetics Laboratory, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Digilio MC; Medical Genetics Laboratory, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Calcagni G; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • di Mambro C; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Dallapiccola B; Scientific Directorate, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Adorisio R; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Novelli A; Medical Genetics Laboratory, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Drago F; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
Am J Med Genet A ; 179(10): 2083-2090, 2019 10.
Article em En | MEDLINE | ID: mdl-31368652
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína SOS1 / Cardiopatias Congênitas / Mutação / Cardiomiopatias / Síndrome de Noonan Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína SOS1 / Cardiopatias Congênitas / Mutação / Cardiomiopatias / Síndrome de Noonan Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália