Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene

European Journal of Pediatrics

Volumn 172, Issue 7, 2013, Pages 959-964

  Agretti, Patrizia ^a   De Marco, Giuseppina ^a   Di Cosmo, Caterina ^a   Ferrarini, Eleonora ^a   Montanelli, Lucia ^a   Bagattini, Brunella ^a   Vitti, Paolo ^a   Tonacchera, Massimo ^b  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY HOSPITAL OF PISA   (Italy)

Author keywords

Congenital hypothyroidism; Genetic analysis; Thyroglobulin gene; Truncated protein

Indexed keywords

LEVOTHYROXINE; LIOTRIX; THYROGLOBULIN; THYROTROPIN;

ABDOMINAL OBESITY; ADOLESCENT; AGITATION; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CLINICAL ASSESSMENT; CONGENITAL HYPOTHYROIDISM; EUTHYROIDISM; EXON; FEMALE; FREE LIOTHYRONINE INDEX; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPOTHYROIDISM; MENTAL DEFICIENCY; NEWBORN SCREENING; PHYSICAL EXAMINATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON; SUBSTITUTION THERAPY; THYROGLOBULIN BLOOD LEVEL; THYROID FUNCTION TEST; UNSTEADY GAIT; VALGUS KNEE;

ADOLESCENT; ADULT; CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; FATHERS; FEMALE; GENE AMPLIFICATION; HUMANS; MALE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; SIBLINGS; THYROGLOBULIN; THYROID FUNCTION TESTS;

EID: 84880166681     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-1976-9     Document Type: Article

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