Genetics and phenomics of hypothyroidism due to TSH resistance

Molecular and Cellular Endocrinology

Volumn 322, Issue 1-2, 2010, Pages 72-82

  Persani, Luca ^a,b   Calebiro, Davide ^a,b   Cordella, Daniela ^a,b   Weber, Giovanna ^c   Gelmini, Giulia ^a,b   Libri, Domenico ^a,b   De Filippis, Tiziana ^b   Bonomi, Marco ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

CAMP pathway; Congenital hypothyroidism; Neonatal screening; Subclinical hypothyroidism; Thyroxine; TSH bioactivity; TSH receptor; TSH resistance

Indexed keywords

LEVOTHYROXINE; THYROTROPIN; THYROTROPIN RECEPTOR;

CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; GENETIC HETEROGENEITY; HUMAN; INTELLIGENCE QUOTIENT; LOSS OF FUNCTION MUTATION; MOLECULAR MECHANICS; NEWBORN SCREENING; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; RISK FACTOR; THYROID FUNCTION TEST; THYROID HORMONE RESISTANCE; THYROTROPIN RESISTANCE;

GENOTYPE; HUMANS; HYPOTHYROIDISM; PHENOTYPE; RECEPTORS, THYROTROPIN; THYROTROPIN;

EID: 77952875267     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2010.01.008     Document Type: Review

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