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Insights on the phenotypic heterogenity of 11ß-hydroxylase deficiency: clinical and genetic studies in two novel families.
Valadares, Luciana Pinto; Pfeilsticker, Alessandra Christine Vieira; de Brito Sousa, Selma Moreira; Cardoso, Sarah Caixeta; de Moraes, Olivia Laquis; Gonçalves de Castro, Luiz Claudio; de Oliveira, Renata Santarem; Lofrano-Porto, Adriana.
Afiliación
  • Valadares LP; Endocrine Unit, Gonadal and Adrenal Diseases Clinics, University Hospital of Brasília, Brasilia, DF, Brazil.
  • Pfeilsticker ACV; Endocrine Unit, Gonadal and Adrenal Diseases Clinics, University Hospital of Brasília, Brasilia, DF, Brazil.
  • de Brito Sousa SM; Pediatric Endocrinology Unit, Faculty of Medicine, Department of Pediatrics, University Hospital of Brasília, University of Brasília, Brasilia, DF, Brazil.
  • Cardoso SC; Molecular Pharmacology Laboratory, Faculty of Health Sciences, University of Brasília, Brasilia, DF, Brazil.
  • de Moraes OL; Molecular Pharmacology Laboratory, Faculty of Health Sciences, University of Brasília, Brasilia, DF, Brazil.
  • Gonçalves de Castro LC; Pediatric Endocrinology Unit, Faculty of Medicine, Department of Pediatrics, University Hospital of Brasília, University of Brasília, Brasilia, DF, Brazil.
  • de Oliveira RS; Endocrine Unit, Gonadal and Adrenal Diseases Clinics, University Hospital of Brasília, Brasilia, DF, Brazil.
  • Lofrano-Porto A; Pediatric Endocrinology Unit, Faculty of Medicine, Department of Pediatrics, University Hospital of Brasília, University of Brasília, Brasilia, DF, Brazil.
Endocrine ; 62(2): 326-332, 2018 11.
Article en En | MEDLINE | ID: mdl-30242600
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esteroide 11-beta-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Heterogeneidad Genética Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Endocrine Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Brasil
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esteroide 11-beta-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Heterogeneidad Genética Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Endocrine Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Brasil