Detection of a mutation in the thyroid hormone receptor beta gene as a cause of pathological laboratory test results in an euthyreotic toddler.
University Children's Hospital, Department of General Pediatrics, Düsseldorf, Germany. Gitta.Kameda@med.uni- duesseldorf.de
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Kameda
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Kameda
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Knauer-Fischer
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Kaminsky
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Mayatepek
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Meissner
D000483:Alleles; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013960:Thyroid Function Tests; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000097:blood
D003062:Codon; D037042:Thyroid Hormone Receptors beta; D014284:Triiodothyronine; D013972:Thyrotropin; D013974:Thyroxine