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A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti, Roser; Cueto-Gonzalez, Anna Maria; Franco-Valls, Héctor; Mort-Farre, Sílvia; Roca-Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana.
Afiliação
  • Urreizti R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
  • Cueto-Gonzalez AM; CIBERER, Barcelona, Spain.
  • Franco-Valls H; Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, Barcelona, Spain.
  • Mort-Farre S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
  • Roca-Ayats N; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
  • Ponomarenko J; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
  • Cozzuto L; CIBERER, Barcelona, Spain.
  • Company C; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Bosio M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Ossowski S; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Montfort M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Hecht J; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Tizzano EF; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Cormand B; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Vilageliu L; CIBERER, Barcelona, Spain.
  • Opitz JM; Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, Barcelona, Spain.
  • Neri G; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
  • Grinberg D; CIBERER, Barcelona, Spain.
  • Balcells S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, Barcelona, Spain.
Sci Rep ; 7: 44138, 2017 03 10.
Article em En | MEDLINE | ID: mdl-28281571
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Mutação de Sentido Incorreto / Craniossinostoses / Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Sci Rep 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: Proteínas / Mutação de Sentido Incorreto / Craniossinostoses / Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Sci Rep Ano de publicação: 2017 Tipo de documento: Article