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Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
Luna, Sofia E; Wegner, Daniel J; Gale, Sarah; Yang, Ping; Hollander, Abby; St Dennis-Feezle, Lori; Nabhan, Zeina M; Ory, Daniel S; Cole, F Sessions; Wambach, Jennifer A.
Afiliação
  • Luna SE; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.
  • Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.
  • Gale S; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Yang P; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.
  • Hollander A; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.
  • St Dennis-Feezle L; Department of Pediatrics, Indiana University School of Medicine and Riley Children's Hospital, Indianapolis, IN, USA.
  • Nabhan ZM; Department of Pediatrics, Indiana University School of Medicine and Riley Children's Hospital, Indianapolis, IN, USA.
  • Ory DS; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.
  • Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA. Electronic address: wambachj@wustl.edu.
J Steroid Biochem Mol Biol ; 212: 105908, 2021 09.
Article em En | MEDLINE | ID: mdl-33984517
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno 46,XY do Desenvolvimento Sexual / 17-Hidroxiesteroide Desidrogenases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: J Steroid Biochem Mol Biol Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno 46,XY do Desenvolvimento Sexual / 17-Hidroxiesteroide Desidrogenases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: J Steroid Biochem Mol Biol Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos