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Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.
Sreenivasan, Rajini; Bell, Katrina; van den Bergen, Jocelyn; Robevska, Gorjana; Belluoccio, Daniele; Dahiya, Rachana; Leong, Gary M; Dulon, Jérôme; Touraine, Philippe; Tucker, Elena J; Ayers, Katie; Sinclair, Andrew.
Afiliação
  • Sreenivasan R; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Bell K; Murdoch Children's Research Institute, Melbourne, Australia.
  • van den Bergen J; Murdoch Children's Research Institute, Melbourne, Australia.
  • Robevska G; Murdoch Children's Research Institute, Melbourne, Australia.
  • Belluoccio D; Agilent Technologies Pty. Ltd., Melbourne, Australia.
  • Dahiya R; Queensland Children's Hospital, Brisbane, Australia; The University of Queensland, Brisbane, Australia.
  • Leong GM; Department of Paediatrics, Nepean Hospital and Charles Perkins Centre Nepean Research Hub, University of Sydney, NSW, Australia.
  • Dulon J; Department of Endocrinology and Reproductive Medicine, AP-HP, Sorbonne University Medicine, Centre de Référence desMaladies Endocriniennes Rares de la Croissance et du Développement, Centre des Pathologies Gynécologiques Rares, Paris, France.
  • Touraine P; Department of Endocrinology and Reproductive Medicine, AP-HP, Sorbonne University Medicine, Centre de Référence desMaladies Endocriniennes Rares de la Croissance et du Développement, Centre des Pathologies Gynécologiques Rares, Paris, France.
  • Tucker EJ; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Ayers K; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Sinclair A; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address: andrew.sinclair@mcri.edu.au.
Mol Cell Endocrinol ; 546: 111570, 2022 04 15.
Article em En | MEDLINE | ID: mdl-35051551
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Resistência a Andrógenos / Variações do Número de Cópias de DNA Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Resistência a Andrógenos / Variações do Número de Cópias de DNA Idioma: En Ano de publicação: 2022 Tipo de documento: Article