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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Tylki-Szymanska, Anna; Acuna-Hidalgo, Rocio; Krajewska-Walasek, Malgorzata; Lecka-Ambroziak, Agnieszka; Steehouwer, Marloes; Gilissen, Christian; Brunner, Han G; Jurecka, Agnieszka; Rózdzynska-Swiatkowska, Agnieszka; Hoischen, Alexander; Chrzanowska, Krystyna H.
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  • Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Acuna-Hidalgo R; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands.
  • Krajewska-Walasek M; Department of Clinical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Lecka-Ambroziak A; Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Steehouwer M; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands.
  • Brunner HG; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands.
  • Jurecka A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Rózdzynska-Swiatkowska A; Anthropology Laboratory, The Children's Memorial Health Institute, Warsaw, Poland.
  • Hoischen A; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands.
  • Chrzanowska KH; Department of Clinical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
J Med Genet ; 52(5): 312-6, 2015 May.
Article en En | MEDLINE | ID: mdl-25670821
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Resistencia a Hormonas Tiroideas / Receptores alfa de Hormona Tiroidea / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Polonia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Resistencia a Hormonas Tiroideas / Receptores alfa de Hormona Tiroidea / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Polonia