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A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).
Peterson, Jess F; Basel, Donald G; Bick, David P; Chirempes, Brett; Lorier, Rachel B; Zemlicka, Nykula; Grignon, John W; Weik, LuAnn; Kappes, Ulrike.
Afiliação
  • Peterson JF; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
  • Basel DG; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
  • Bick DP; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
  • Chirempes B; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States.
  • Lorier RB; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States.
  • Zemlicka N; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States.
  • Grignon JW; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States.
  • Weik L; Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin, United States.
  • Kappes U; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
J Pediatr Genet ; 7(1): 23-28, 2018 Mar.
Article em En | MEDLINE | ID: mdl-29441218
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2018 Tipo de documento: Article