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Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Logeswaran, Thushiha; Friedburg, Christoph; Hofmann, Karoline; Akintuerk, Hakan; Biskup, Saskia; Graef, Michael; Rad, Ali; Weber, Axel; Neubauer, Bernd A; Schranz, Dietmar; Bouvagnet, Patrice; Lorenz, Birgit; Hahn, Andreas.
Afiliação
  • Logeswaran T; Department of Pediatric Cardiology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Friedburg C; Department of Ophthalmology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Hofmann K; Department of Pediatric Cardiology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Akintuerk H; Department of Pediatric Cardiac Surgery, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Biskup S; Center for Genomics and Transcriptomics, Tübingen, Germany.
  • Graef M; Department of Ophthalmology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Rad A; Department of Pediatric Cardiology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Weber A; Department of Human Genetics, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Neubauer BA; Department of Child Neurology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Schranz D; Department of Pediatric Cardiology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Bouvagnet P; Laboratoire Cardiogénétique, Hospices Civils de Lyon, et Université Lyon 1, Lyon, France.
  • Lorenz B; Department of Ophthalmology, Justus-Liebig-University of Giessen, Giessen, Germany.
  • Hahn A; Department of Child Neurology, Justus-Liebig-University of Giessen, Giessen, Germany.
Am J Med Genet A ; 173(4): 959-965, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28328125
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma Aórtico / Oftalmopatias Hereditárias / Midríase / Actinas / Permeabilidade do Canal Arterial / Cardiopatias Congênitas / Mutação Limite: Adult / Female / Humans / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma Aórtico / Oftalmopatias Hereditárias / Midríase / Actinas / Permeabilidade do Canal Arterial / Cardiopatias Congênitas / Mutação Limite: Adult / Female / Humans / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article