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Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Baetens, Dorien; Güran, Tülay; Mendonca, Berenice B; Gomes, Nathalia L; De Cauwer, Lode; Peelman, Frank; Verdin, Hannah; Vuylsteke, Marnik; Van der Linden, Malaïka; Atay, Zeynep; Bereket, Abdullah; de Krijger, Ronald R; Preter, Katleen de; Domenice, Sorahia; Turan, Serap; Stoop, Hans; Looijenga, Leendert H; De Bosscher, Karolien; Cools, Martine; De Baere, Elfride.
Afiliación
  • Baetens D; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Güran T; Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, Division of Pediatric Endocrinology and Diabetes, Istanbul, Turkey.
  • Mendonca BB; Disciplina de Endocrinologia, Laboratorio de Hormonios e Genetica Molecular LIM/42, Unidade de Adrenal, Disc. de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • Gomes NL; Disciplina de Endocrinologia, Laboratorio de Hormonios e Genetica Molecular LIM/42, Unidade de Adrenal, Disc. de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • De Cauwer L; Receptor Research Laboratories, Nuclear Receptor Lab, Department of Medical Protein Research, VIB, Ghent, Belgium.
  • Peelman F; Department of Biochemistry, Ghent University, Ghent, Belgium.
  • Verdin H; Receptor Research Laboratories, Nuclear Receptor Lab, Department of Medical Protein Research, VIB, Ghent, Belgium.
  • Vuylsteke M; Department of Biochemistry, Ghent University, Ghent, Belgium.
  • Van der Linden M; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Atay Z; Department of Medical and Forensic Pathology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • De Bosscher K; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Cools M; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • De Baere E; Receptor Research Laboratories, Nuclear Receptor Lab, Department of Medical Protein Research, VIB, Ghent, Belgium.
Genet Med ; 20(7): 717-727, 2018 07.
Article en En | MEDLINE | ID: mdl-29261182
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor beta de Estrógeno / Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor beta de Estrógeno / Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos