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Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Abell, Katherine; Tolusso, Leandra; Smith, Nicki; Hopkin, Robert; Vawter-Lee, Marissa; Habli, Mounira; Riddle, Stefanie; Calvo-Garcia, Maria A; Guan, Qiaoning; Bierbrauer, Karin; Hwa, Vivian; Saal, Howard M.
Afiliação
  • Abell K; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Tolusso L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Smith N; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Hopkin R; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Vawter-Lee M; Department of Obstetrics and Gynecology, Good Samaritan Hospital, Cincinnati, Ohio, USA.
  • Habli M; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Riddle S; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Calvo-Garcia MA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Guan Q; Division of Child Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Bierbrauer K; Department of Obstetrics and Gynecology, Good Samaritan Hospital, Cincinnati, Ohio, USA.
  • Hwa V; Cincinnati Fetal Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Saal HM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Birth Defects Res ; 112(19): 1733-1737, 2020 11.
Article em En | MEDLINE | ID: mdl-32935482

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Proteu Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Birth Defects Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Proteu Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Birth Defects Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos