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Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Walters-Sen, Lauren C; Thrush, Devon Lamb; Hickey, Scott E; Hashimoto, Sayaka; Reshmi, Shalini; Gastier-Foster, Julie M; Pyatt, Robert E; Astbury, Caroline.
Afiliação
  • Walters-Sen LC; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
  • Thrush DL; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
  • Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
  • Hashimoto S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
  • Reshmi S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.
  • Gastier-Foster JM; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.
  • Pyatt RE; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.
  • Astbury C; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: Caroline.Astbury@nationwidechildrens.org.
Eur J Med Genet ; 57(7): 315-8, 2014 Jul.
Article em En | MEDLINE | ID: mdl-24821304
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Cromossomos Humanos Par 17 / Displasia Campomélica / Fatores de Transcrição SOX9 Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Cromossomos Humanos Par 17 / Displasia Campomélica / Fatores de Transcrição SOX9 Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2014 Tipo de documento: Article