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Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.
Bouchoucha, Nadia; Samara-Boustani, Dinane; Pandey, Amit V; Bony-Trifunovic, Helene; Hofer, Gaby; Aigrain, Yves; Polak, Michel; Flück, Christa E.
Afiliación
  • Bouchoucha N; Pediatric Endocrinology and Diabetology, University Children's Hospital, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland.
  • Samara-Boustani D; Pediatric Endocrinology, Gynecology and Diabetology, Hôpital Universitaire Necker Enfants Malades, Centre des maladies endocriniennes rares de la croissance et des pathologies gynecologiques rares, IMAGINE affiliate, Université Paris Descartes, Paris, France.
  • Pandey AV; Pediatric Endocrinology and Diabetology, University Children's Hospital, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland.
  • Bony-Trifunovic H; Pediatrie Department, CHU Amiens, Centre de compétences des maladies endocriniennes rares de la croissance, Amiens, France.
  • Hofer G; Pediatric Endocrinology and Diabetology, University Children's Hospital, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland.
  • Aigrain Y; Pediatric Surgery, Hôpital Universitaire Necker Enfants Malades, Centre des pathologies gynecologiques rares, Université Paris Descartes, Paris, France.
  • Polak M; Pediatric Endocrinology, Gynecology and Diabetology, Hôpital Universitaire Necker Enfants Malades, Centre des maladies endocriniennes rares de la croissance et des pathologies gynecologiques rares, IMAGINE affiliate, Université Paris Descartes, Paris, France.
  • Flück CE; Pediatric Endocrinology and Diabetology, University Children's Hospital, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland. Electronic address: christa.flueck@dkf.unibe.ch.
Mol Cell Endocrinol ; 390(1-2): 8-17, 2014 Jun 05.
Article en En | MEDLINE | ID: mdl-24705274
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Virilismo / Aromatasa / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Animals / Child / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Mol Cell Endocrinol Año: 2014 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Virilismo / Aromatasa / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Animals / Child / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Mol Cell Endocrinol Año: 2014 Tipo del documento: Article País de afiliación: Suiza