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A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue.
Acar, Sezer; Erbas, Ibrahim Mert; Paketçi, Ahu; Onay, Hüseyin; Çankaya, Tufan; Gürsoy, Semra; Özhan, Bayram; Abaci, Ayhan; Özer, Erdener; Olguner, Mustafa; Böber, Ece; Demir, Korcan.
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  • Acar S; Departments of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Erbas IM; Departments of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Paketçi A; Departments of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Onay H; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Çankaya T; Departments of Medical Genetics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Gürsoy S; Departments of Pediatric Genetics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Özhan B; Department of Pediatric Endocrinology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
  • Abaci A; Departments of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Özer E; Departments of Pathology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Olguner M; Departments of Pediatric Surgery, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Böber E; Departments of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
  • Demir K; Departments of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
Turk J Pediatr ; 62(5): 826-830, 2020.
Article en En | MEDLINE | ID: mdl-33108086
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual 46, XX / Ginecomastia / Infertilidad Masculina / Errores Innatos del Metabolismo Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Turk J Pediatr Año: 2020 Tipo del documento: Article País de afiliación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual 46, XX / Ginecomastia / Infertilidad Masculina / Errores Innatos del Metabolismo Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Turk J Pediatr Año: 2020 Tipo del documento: Article País de afiliación: Turquía