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Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
Cicek, Dilek; Warr, Nick; Yesil, Gozde; Kocak Eker, Hatice; Bas, Firdevs; Poyrazoglu, Sukran; Darendeliler, Feyza; Direk, Gul; Hatipoglu, Nihal; Eltan, Mehmet; Yavas Abali, Zehra; Gurpinar Tosun, Busra; Kaygusuz, Sare Betul; Seven Menevse, Tuba; Helvacioglu, Didem; Turan, Serap; Bereket, Abdullah; Reeves, Richard; Simon, Michelle; Mackenzie, Matthew; Teboul, Lydia; Greenfield, Andy; Guran, Tulay.
Afiliação
  • Cicek D; Department of Paediatric Endocrinology and Diabetes, Erciyes University, School of Medicine, Kayseri, Turkey.
  • Warr N; Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK.
  • Yesil G; Department of Medical Genetics, Istanbul University, School of Medicine, Istanbul, Turkey.
  • Kocak Eker H; Department of Medical Genetics, Konya Training and Research Hospital, Konya, Turkey.
  • Bas F; Department of Pediatric Endocrinology and Diabetes, Istanbul University, School of Medicine, Istanbul, Turkey.
  • Poyrazoglu S; Department of Pediatric Endocrinology and Diabetes, Istanbul University, School of Medicine, Istanbul, Turkey.
  • Darendeliler F; Department of Pediatric Endocrinology and Diabetes, Istanbul University, School of Medicine, Istanbul, Turkey.
  • Direk G; Department of Paediatric Endocrinology and Diabetes, Erciyes University, School of Medicine, Kayseri, Turkey.
  • Hatipoglu N; Department of Paediatric Endocrinology and Diabetes, Erciyes University, School of Medicine, Kayseri, Turkey.
  • Eltan M; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Yavas Abali Z; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Gurpinar Tosun B; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Kaygusuz SB; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Seven Menevse T; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Helvacioglu D; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Turan S; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Bereket A; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
  • Reeves R; Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK.
  • Simon M; Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK.
  • Mackenzie M; Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK.
  • Teboul L; Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK.
  • Greenfield A; Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, Oxfordshire, UK.
  • Guran T; Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
Eur J Endocrinol ; 186(1): 65-72, 2021 Dec 01.
Article em En | MEDLINE | ID: mdl-34714774

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disgenesia Gonadal 46 XX / Proteína Fosfatase 2 / Disgenesia Gonadal 46 XY Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Endocrinol Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Turquia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disgenesia Gonadal 46 XX / Proteína Fosfatase 2 / Disgenesia Gonadal 46 XY Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Endocrinol Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Turquia