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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Menabò, Soara; Polat, Seher; Baldazzi, Lilia; Kulle, Alexandra E; Holterhus, Paul-Martin; Grötzinger, Joachim; Fanelli, Flaminia; Balsamo, Antonio; Riepe, Felix G.
Afiliación
  • Menabò S; Program of Pediatric Endocrinology, Pediatric Unit, Department of Medical and Surgical Sciences; Azienda Policlinico S. Orsola Malpighi, University of Bologna, Bologna, Italy.
  • Polat S; Erciyes University, Medical Faculty, Medical Genetics Department, Kayseri, Turkey.
  • Baldazzi L; Program of Pediatric Endocrinology, Pediatric Unit, Department of Medical and Surgical Sciences; Azienda Policlinico S. Orsola Malpighi, University of Bologna, Bologna, Italy.
  • Kulle AE; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital, Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Holterhus PM; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital, Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Grötzinger J; Biochemical Institute, Christian-Albrecht-University of Kiel, Kiel, Germany.
  • Fanelli F; Endocrinology Unit - Department of Medical and Surgical Sciences; Center for Applied Biomedical Research (CRBA), Bologna, Italy.
  • Balsamo A; Program of Pediatric Endocrinology, Pediatric Unit, Department of Medical and Surgical Sciences; Azienda Policlinico S. Orsola Malpighi, University of Bologna, Bologna, Italy.
  • Riepe FG; Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital, Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Eur J Hum Genet ; 22(5): 610-6, 2014 May.
Article en En | MEDLINE | ID: mdl-24022297

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esteroide 11-beta-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esteroide 11-beta-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido