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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Mackay, Deborah J G; Bliek, Jet; Lombardi, Maria Paola; Russo, Silvia; Calzari, Luciano; Guzzetti, Sara; Izzi, Claudia; Selicorni, Angelo; Melis, Daniela; Temple, Karen; Maher, Eamonn; Brioude, Frédéric; Netchine, Irène; Eggermann, Thomas.
Afiliación
  • Mackay DJG; Faculty of Medicine,University of Southampton,Southampton SO17 1BJ,UKandWessex Regional Genetics Laboratory,Salisbury SP2 8BJ,UK.
  • Bliek J; Department of Clinical Genetics,Academic Medical Center,University of Amsterdam,Amsterdam,The Netherlands.
  • Lombardi MP; Department of Clinical Genetics,Academic Medical Center,University of Amsterdam,Amsterdam,The Netherlands.
  • Russo S; Medical Cytogenetics and Molecular Genetics Laboratory,Centro di Ricerche e Tecnologie Biomediche IRCCS,Istituto Auxologico Italiano,Milan,Italy.
  • Calzari L; Medical Cytogenetics and Molecular Genetics Laboratory,Centro di Ricerche e Tecnologie Biomediche IRCCS,Istituto Auxologico Italiano,Milan,Italy.
  • Guzzetti S; Medical Cytogenetics and Molecular Genetics Laboratory,Centro di Ricerche e Tecnologie Biomediche IRCCS,Istituto Auxologico Italiano,Milan,Italy.
  • Izzi C; Prenatal Diagnosis Unit,Department of Obstetrics and Gynecology,ASST Spedali Civili of Brescia,Brescia,Italy.
  • Selicorni A; Pediatric Unit,ASST Lariana Como,Como,Italy.
  • Melis D; Department of Pediatrics,University "Federico II",Napoli,Italy.
  • Temple K; Faculty of Medicine,University of Southampton,Southampton SO17 1BJ,UKandWessex Regional Genetics Laboratory,Salisbury SP2 8BJ,UK.
  • Maher E; Department of Medical Genetics,University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre,Cambridge Biomedical Campus,Cambridge,UK.
  • Brioude F; Sorbonne Université,INSERM,UMR 938, Centre de Recherche Saint-Antoine (CRSA),APHP Hôpital Trousseau,75012 Paris,France.
  • Netchine I; Sorbonne Université,INSERM,UMR 938, Centre de Recherche Saint-Antoine (CRSA),APHP Hôpital Trousseau,75012 Paris,France.
  • Eggermann T; Institute of Human Genetics, University Hospital, Technical University of Aachen,Aachen,Germany.
Genet Res (Camb) ; 101: e3, 2019 03 04.
Article en En | MEDLINE | ID: mdl-30829192

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Genet Res (Camb) Año: 2019 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Genet Res (Camb) Año: 2019 Tipo del documento: Article