A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 8, 2010, Pages 3605-3610

  Winkler, Franziska ^a   Kleinau, Gunnar ^b   Tarnow, Patrick ^a   Rediger, Anne ^a   Grohmann, Lisa ^a   Gaetjens, Imke ^c   Krause, Gerd ^b   L'Allemand, Dagmar ^d   Grüters, Annette ^a   Krude, Heiko ^a   Biebermann, Heike ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b LEIBNIZ INSTITUT FÜR MOLEKULARE PHARMAKOLOGIE   (Germany)

^c Gemeinschaftspraxis Kinderheilkunde und Jugendmedizin   (Germany)

^d Senology Center of Eastern Switzerland   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIMAZOLE; CYCLIC AMP; CYSTEINE; LIOTHYRONINE; RADIOACTIVE IODINE; THIAMAZOLE; THYROID HORMONE; THYROTROPIN; THYROTROPIN RECEPTOR; TRYPTOPHAN;

ARTICLE; BLOOD PRESSURE; BODY MASS; CASE REPORT; CELL SURFACE; CHILD; COW; DNA HELIX; DNA HELIX 6; EXON; FEMALE; GENE MUTATION; GOITER; HEADACHE; HEART RATE; HEIGHT; HETEROZYGOTE; HUMAN; HYPERACTIVITY; HYPERTHYROIDISM; MALE; NONHUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIOFREQUENCY ABLATION; SCHOOL CHILD; SIGNAL TRANSDUCTION; WILD TYPE;

EID: 77955375893     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-0112     Document Type: Article

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