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Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Spier, Isabel; Engels, Hartmut; Stutte, Sonja; Reutter, Heiko; Bartels, Enrika; Matos Meder, Sarah; Begemann, Matthias; Mangold, Elisabeth; Eggermann, Thomas.
Afiliação
  • Spier I; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Engels H; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Stutte S; Children's Hospital, University of Bonn, Bonn, Germany.
  • Reutter H; Children's Hospital, University of Bonn, Bonn, Germany.
  • Bartels E; Institute of Clinical Genetics, Bonn, Germany.
  • Matos Meder S; Institute of Clinical Genetics, Bonn, Germany.
  • Begemann M; Institute of Human Genetics, University Hospital, Technical University of Aachen, Aachen, Germany.
  • Mangold E; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Eggermann T; Institute of Human Genetics, University Hospital, Technical University of Aachen, Aachen, Germany.
Am J Med Genet A ; 179(11): 2252-2256, 2019 11.
Article em En | MEDLINE | ID: mdl-31373173

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dissomia Uniparental / Estudos de Associação Genética / Cariótipo / Herança Paterna / Mosaicismo Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dissomia Uniparental / Estudos de Associação Genética / Cariótipo / Herança Paterna / Mosaicismo Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article