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Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.
Dworschak, G C; Crétolle, C; Hilger, A; Engels, H; Korsch, E; Reutter, H; Ludwig, M.
Afiliação
  • Dworschak GC; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Crétolle C; Department of Pediatrics, Children's Hospital, University of Bonn, Bonn, Germany.
  • Hilger A; Department of Pediatric Surgery, Paris Descartes University, Paris, France.
  • Engels H; National Reference Centre for Rare Diseases on Anorectal Malformations and Rare Pelvic Anomalies, Necker-Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Korsch E; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Ludwig M; Clinic for Pediatric Diseases, Kliniken der Stadt Köln GmbH, Cologne, Germany.
Clin Genet ; 91(5): 661-671, 2017 May.
Article em En | MEDLINE | ID: mdl-27549440

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trissomia / Anormalidades Múltiplas Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trissomia / Anormalidades Múltiplas Idioma: En Ano de publicação: 2017 Tipo de documento: Article