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Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
Onesimo, Roberta; Versacci, Paolo; Delogu, Angelica Bibiana; De Rosa, Gabriella; Pugnaloni, Flaminia; Blandino, Rita; Leoni, Chiara; Calcagni, Giulio; Digilio, Maria C; Zollino, Marcella; Marino, Bruno; Zampino, Giuseppe.
Affiliation
  • Onesimo R; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
  • Versacci P; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
  • Delogu AB; Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Policlinico Umberto I, Rome, Italy.
  • De Rosa G; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
  • Pugnaloni F; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
  • Blandino R; Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Policlinico Umberto I, Rome, Italy.
  • Leoni C; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
  • Calcagni G; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
  • Digilio MC; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
  • Zollino M; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Marino B; Medical Genetics Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
  • Zampino G; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Rome, Italy.
Am J Med Genet A ; 185(7): 2003-2011, 2021 07.
Article in En | MEDLINE | ID: mdl-33811726
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Smith-Magenis Syndrome / Heart / Heart Defects, Congenital / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Year: 2021 Document type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Smith-Magenis Syndrome / Heart / Heart Defects, Congenital / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Year: 2021 Document type: Article