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Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Robevska, Gorjana; Hanna, Chloe; van den Bergen, Jocelyn; Welch, John; Couper, Jennifer; Harris, Shannon; Joshi, Kriti; Brown, Justin; Sabin, Matthew; Sinclair, Andrew; O'Connell, Michele; Ayers, Katie.
Afiliación
  • Robevska G; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Hanna C; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • van den Bergen J; Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
  • Welch J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Couper J; Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, Victoria, Australia.
  • Harris S; Department of Diabetes and Endocrinology, Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Joshi K; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
  • Brown J; Department of Diabetes and Endocrinology, Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Sabin M; Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
  • Sinclair A; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • O'Connell M; Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, Victoria, Australia.
  • Ayers K; Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
Sex Dev ; 17(1): 8-15, 2023.
Article en En | MEDLINE | ID: mdl-36724755
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male País/Región como asunto: Oceania Idioma: En Revista: Sex Dev Asunto de la revista: CIENCIAS DO COMPORTAMENTO Año: 2023 Tipo del documento: Article País de afiliación: Australia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male País/Región como asunto: Oceania Idioma: En Revista: Sex Dev Asunto de la revista: CIENCIAS DO COMPORTAMENTO Año: 2023 Tipo del documento: Article País de afiliación: Australia