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Klin Padiatr 2010; 222(7): 462-463
DOI: 10.1055/s-0030-1265180
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Detection of a Mutation in the Thyroid Hormone Receptor Beta Gene as a Cause of Pathological Laboratory Test Results in an Euthyreotic Toddler

Nachweis einer Mutation im Schilddrüsenhormon-ß-Rezeptor-Gen als Ursache pathologischer Laborwerte eines klinisch euthyreoten KleinkindesG. Kameda1 , G. Kameda2 , S. Knauer-Fischer1 , E. Kaminsky3 , E. Mayatepek1 , T. Meißner1
  • 1University Children's Hospital, Department of General Pediatrics, Düsseldorf, Germany
  • 2Gemeinschaftskrankenhaus, Clinics for Children and Adolescents, Herdecke, Germany
  • 3Praxis für Humangenetik-Altona, Molekulargenetisches Labor, Hamburg, Germany
Further Information

Publication History

Publication Date:
25 November 2010 (online)

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Key words

RTH - hyperthyroxinemia - genetics - thyroid hormone receptor-beta

Schlüsselwörter

RTH - Hyperthyroxinämie - Genetik - Schilddrüsenhormon-ß-Rezeptor

References

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  • 2 Beck-Peccoz P, Chatterjee VK. The variable clinical phenotype in thyroid hormone resistance syndrome.  Thyroid. 1994;  4 225-232
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Correspondence

Dr. Gitta Kameda

Universitätsklinikum Düsseldorf

Klinik für Allgemeine Pädiatrie

Moorenstraße 5

40225 Düsseldorf

Germany

Phone: +49/211/811 7687

Fax: +49/211/811 8757

Email: Gitta.Kameda@med.uni-duesseldorf.de

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