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Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Altunoglu, Umut; Börklü, Esra; Shukla, Anju; Escande-Beillard, Nathalie; Ledig, Susanne; Azakli, Hülya; Nayak, Shalini S; Eraslan, Serpil; Girisha, Katta Mohan; Kennerknecht, Ingo; Kayserili, Hülya.
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  • Altunoglu U; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.
  • Börklü E; Medical Genetics Department, Istanbul University Istanbul Medical School, Istanbul, Turkey.
  • Shukla A; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.
  • Escande-Beillard N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Ledig S; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.
  • Azakli H; Institute of Medical Biology, A*STAR, Singapore, Singapore.
  • Nayak SS; Institut für Humangenetik, Westfaelische Wilhelms-Universitaet Muenster, Muenster, Germany.
  • Eraslan S; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Kennerknecht I; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.
  • Kayserili H; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Clin Genet ; 101(2): 221-232, 2022 02.
Article en En | MEDLINE | ID: mdl-34750818
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Disgenesia Gonadal 46 XX / Proteína Fosfatasa 2 / Disgenesia Gonadal 46 XY / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Disgenesia Gonadal 46 XX / Proteína Fosfatasa 2 / Disgenesia Gonadal 46 XY / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article