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Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.
Chang, Caitlin A; Di Donato, Nataliya; Hackmann, Karl; Argiropoulos, Bob; Ferreira, Patrick; Innes, A Micheil; Thomas, Mary Ann.
  • Chang CA; The Department of Medical Genetics, Cumming School of Medicine, Calgary, Alberta, Canada.
  • Di Donato N; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Argiropoulos B; The Department of Medical Genetics, Cumming School of Medicine, Calgary, Alberta, Canada.
  • Ferreira P; Cytogenetics Laboratory South, Alberta Precision Laboratories, Calgary, Alberta, Canada.
  • Innes AM; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
  • Thomas MA; The Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Am J Med Genet A ; 182(12): 3040-3047, 2020 12.
Article en En | MEDLINE | ID: mdl-33026187

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Cromosomas Humanos Par 9 / Proteínas de Homeodominio / Duplicación Cromosómica / Hernia Hiatal / Mutación Límite: Adolescent / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Cromosomas Humanos Par 9 / Proteínas de Homeodominio / Duplicación Cromosómica / Hernia Hiatal / Mutación Límite: Adolescent / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article