Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations

Thyroid

Volumn 18, Issue 7, 2008, Pages 783-786

  Pardo, Viviane ^a   Rubio, Ileana G S ^a   Knobel, Meyer ^a   Aguiar Oliveira, Manoel H ^b   Santos, Marcos M ^b   Gomes, Simone A ^b   Oliveira, Carla R P ^b   Targovnik, Hector M ^c   Medeiros Neto, Geraldo ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF SERGIPE   (Brazil)

^c UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE; LEVOTHYROXINE; LIOTHYRONINE; THYROGLOBULIN; THYROXINE;

ARTICLE; CASE REPORT; CHILD; COMPUTER ANALYSIS; CONGENITAL HYPOTHYROIDISM; FAMILY; FEMALE; FETUS DISEASE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC STABILITY; GOITER; HETEROZYGOSITY; HORMONE SUBSTITUTION; HUMAN; LIOTHYRONINE BLOOD LEVEL; MALE; MENTAL DEFICIENCY; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PHYSICAL DEVELOPMENT; PRIORITY JOURNAL; RELATIVE; SIBLING; THYROID FUNCTION TEST; THYROXINE BLOOD LEVEL; TREATMENT DURATION; TREATMENT OUTCOME;

BRAZIL; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; THYROGLOBULIN; THYROTROPIN; THYROXINE; TRIIODOTHYRONINE;

EID: 47549109567     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2007.0321     Document Type: Article

References (13)

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