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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Clift, Paul; Learn, Christopher; Dykes, John C; Mercer, Catherine L; Callewaert, Bert; Meerschaut, Ilse; Spinelli, Alessandro Mauro; Bruno, Irene; Gillespie, Matthew J; Dorfman, Aaron T; Grimberg, Adda; Lindsay, Mark E; Lin, Angela E.
Affiliation
  • Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy.
  • Clift P; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Learn C; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy.
  • Dykes JC; Adult Congenital Heart Disease Unit, University Hospitals Birmingham, Birmingham, UK.
  • Mercer CL; Adult Congenital Heart Disease Program, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Callewaert B; Departments of Pediatrics, Stanford, California, USA.
  • Meerschaut I; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, UK.
  • Spinelli AM; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Bruno I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Gillespie MJ; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Dorfman AT; Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.
  • Grimberg A; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Lindsay ME; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Lin AE; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 188(5): 1384-1395, 2022 05.
Article in En | MEDLINE | ID: mdl-35025139
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tetralogy of Fallot / Heart Defects, Congenital Limits: Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tetralogy of Fallot / Heart Defects, Congenital Limits: Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy