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Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio, Maria Cristina; Calcagni, Giulio; Gnazzo, Maria; Versacci, Paolo; Dentici, Maria Lisa; Capolino, Rossella; Sinibaldi, Lorenzo; Baban, Anwar; Putotto, Carolina; Alfieri, Paolo; Unolt, Marta; Lepri, Francesca R; Alesi, Viola; Genovese, Silvia; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno.
Afiliação
  • Digilio MC; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Calcagni G; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Gnazzo M; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Versacci P; Pediatric Cardiology Unit, Department of Pediatrics and Urologic Sciences, "La Sapienza" University, Rome, Italy.
  • Dentici ML; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Capolino R; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Sinibaldi L; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Baban A; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Putotto C; Pediatric Cardiology Unit, Department of Pediatrics and Urologic Sciences, "La Sapienza" University, Rome, Italy.
  • Alfieri P; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Unolt M; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Lepri FR; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Alesi V; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Genovese S; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Novelli A; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Marino B; Pediatric Cardiology Unit, Department of Pediatrics and Urologic Sciences, "La Sapienza" University, Rome, Italy.
  • Dallapiccola B; Medical Genetics Unit and Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
Am J Med Genet A ; 188(4): 1149-1159, 2022 04.
Article em En | MEDLINE | ID: mdl-34971082

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Cardiopatias Congênitas / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Cardiopatias Congênitas / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália