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SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.
de Oliveira, Flávia Marcorin; Barros, Beatriz Amstalden; Dos Santos, Ana Paula; Campos, Nilma Lúcia Viguetti; Mazzola, Taís Nitsch; Filho, Paulo Latuf; Andrade, Liliana Aparecida Lucci De Angelo; Guaragna, Mara Sanches; de Mello, Maricilda Palandi; Guerra-Junior, Gil; Vieira, Társis Antonio Paiva; Maciel-Guerra, Andréa Trevas.
Afiliación
  • de Oliveira FM; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Barros BA; Department of Pediatrics, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Dos Santos AP; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Campos NLV; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Mazzola TN; Pediatric Research Center - Ciped, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Filho PL; Pediatric Research Center - Ciped, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Andrade LALA; Department of Pathology, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Guaragna MS; Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • de Mello MP; Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Guerra-Junior G; Department of Pediatrics, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Vieira TAP; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
  • Maciel-Guerra AT; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Am J Med Genet A ; 191(2): 592-598, 2023 02.
Article en En | MEDLINE | ID: mdl-36416214
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Ovotesticulares del Desarrollo Sexual / Mosaicismo Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Ovotesticulares del Desarrollo Sexual / Mosaicismo Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos