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Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

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Title: Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Authors: Lin AE; Genetics Unit, Massachusetts General Hospital, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts. lin.angela@mgh.harvard.edu., Michot C; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France., Cormier-Daire V; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France., L'Ecuyer TJ; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia., Matherne GP; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia., Barnes BH; Division of Gastroenterology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia., Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia., Edmondson AC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., O'Connor MJ; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi., Ebeid MR; Division of Cardiology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi., Krier J; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Krieg E; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Ghoshhajra B; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Lindsay ME; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Pediatric Cardiology, Department of Pediatrics, MassGeneral Hospital for Children, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2617-31. Date of Electronic Publication: 2016 Jun 14.
Publication Type: Case Reports; Journal Article; Review
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Lin+AE%22">Lin AE</searchLink>; Genetics Unit, Massachusetts General Hospital, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts. lin.angela@mgh.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Michot+C%22">Michot C</searchLink>; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22L'Ecuyer+TJ%22">L'Ecuyer TJ</searchLink>; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.<br /><searchLink fieldCode="AU" term="%22Matherne+GP%22">Matherne GP</searchLink>; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.<br /><searchLink fieldCode="AU" term="%22Barnes+BH%22">Barnes BH</searchLink>; Division of Gastroenterology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.<br /><searchLink fieldCode="AU" term="%22Humberson+JB%22">Humberson JB</searchLink>; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.<br /><searchLink fieldCode="AU" term="%22Edmondson+AC%22">Edmondson AC</searchLink>; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Zackai+E%22">Zackai E</searchLink>; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22O'Connor+MJ%22">O'Connor MJ</searchLink>; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Kaplan+JD%22">Kaplan JD</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.<br /><searchLink fieldCode="AU" term="%22Ebeid+MR%22">Ebeid MR</searchLink>; Division of Cardiology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.<br /><searchLink fieldCode="AU" term="%22Krier+J%22">Krier J</searchLink>; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Krieg+E%22">Krieg E</searchLink>; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Ghoshhajra+B%22">Ghoshhajra B</searchLink>; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Lindsay+ME%22">Lindsay ME</searchLink>; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Pediatric Cardiology, Department of Pediatrics, MassGeneral Hospital for Children, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2617-31. <i>Date of Electronic Publication: </i>2016 Jun 14.
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