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Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.
Arteaga, Eugenio; Valenzuela, Felipe; Lagos, Carlos F; Lagos, Marcela; Martinez, Alejandra; Baudrand, Rene; Carvajal, Cristian; Fardella, Carlos E.
Affiliation
  • Arteaga E; Departamento de Endocrinología and Centro Traslacional en Endocrinología (CETREN), Facultad de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Piso 4, Santiago Centro, 8330077, Santiago, Chile. eugenioarteaga@gmail.com.
  • Valenzuela F; Departamento de Endocrinología and Centro Traslacional en Endocrinología (CETREN), Facultad de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Piso 4, Santiago Centro, 8330077, Santiago, Chile.
  • Lagos CF; Facultad de Medicina y Ciencia, Universidad San Sebastián, Campus Los Leones, Lota 2465, Providencia, 7510157, Santiago, Chile.
  • Lagos M; Departamento de Laboratorios Clínicos, Facultad de Medicina, Pontificia Universidad Católica de Chile, Av. Vicuña Mackenna 4686, Piso 3, Macul, 7820436, Santiago, Chile.
  • Martinez A; Departamento de Endocrinología and Centro Traslacional en Endocrinología (CETREN), Facultad de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Piso 4, Santiago Centro, 8330077, Santiago, Chile.
  • Baudrand R; Departamento de Endocrinología and Centro Traslacional en Endocrinología (CETREN), Facultad de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Piso 4, Santiago Centro, 8330077, Santiago, Chile.
  • Carvajal C; Instituto Milenio en Inmunología e Inmunoterapia IMII, Portugal 49, Santiago Centro, 8330075, Santiago, Chile.
  • Fardella CE; Departamento de Endocrinología and Centro Traslacional en Endocrinología (CETREN), Facultad de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Piso 4, Santiago Centro, 8330077, Santiago, Chile.
Endocrine ; 67(1): 258-263, 2020 01.
Article in En | MEDLINE | ID: mdl-31571129
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Hyperplasia, Congenital Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans / Male Country/Region as subject: America do sul / Chile Language: En Journal: Endocrine Journal subject: ENDOCRINOLOGIA Year: 2020 Document type: Article Affiliation country: Chile Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Hyperplasia, Congenital Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans / Male Country/Region as subject: America do sul / Chile Language: En Journal: Endocrine Journal subject: ENDOCRINOLOGIA Year: 2020 Document type: Article Affiliation country: Chile Country of publication: United States