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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Li, Mindy; Glass, Jennifer; Du, Xiaoli; Dubbs, Holly; Harr, Margaret Horton; Falk, Marni; Smolarek, Teresa; Hopkin, Robert J; Zackai, Elaine; Sheppard, Sarah E.
Afiliação
  • Li M; Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, Illinois, USA.
  • Glass J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Du X; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Dubbs H; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Harr MH; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Falk M; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Smolarek T; Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Zackai E; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Sheppard SE; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 185(8): 2374-2383, 2021 08.
Article em En | MEDLINE | ID: mdl-33969943

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trissomia / Predisposição Genética para Doença / Dissomia Uniparental / Estudos de Associação Genética Tipo de estudo: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trissomia / Predisposição Genética para Doença / Dissomia Uniparental / Estudos de Associação Genética Tipo de estudo: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article