Current loss-of-function mutations in the thyrotropin receptor gene: When to investigate, clinical effects, and treatment

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 5, Issue SUPPL.1, 2013, Pages 29-39

  Cassio, Alessandra ^a   Nicoletti, Annalisa ^a   Rizzello, Angela ^a   Zazzetta, Emanuela ^a   Bal, Milva ^a   Baldazzi, Lilia ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Congenital hypothyroidism; Neonatal screening; Subclinical hypothyroidism; Thyrotropin receptor gene mutations

Indexed keywords

CYCLIC AMP; GUANINE NUCLEOTIDE BINDING PROTEIN; LEVOTHYROXINE SODIUM; PARATHYROID HORMONE; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE;

AUTOIMMUNE THYROIDITIS; CONGENITAL HYPOTHYROIDISM; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EXON; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NEWBORN SCREENING; PREVALENCE; PROTEIN INTERACTION; RECEPTOR GENE; REVIEW; SIGNAL TRANSDUCTION; THYROID DISEASE; THYROID DYSGENESIS; THYROID WEIGHT; THYROTROPIN BLOOD LEVEL; THYROTROPIN RECEPTOR GENE;

CONGENITAL HYPOTHYROIDISM; HUMANS; MUTATION; RECEPTORS, THYROTROPIN;

EID: 84874507556     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/Jcrpe.864     Document Type: Review

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