A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels

Journal of Human Genetics

Volumn 51, Issue 4, 2006, Pages 379-382

  Kitanaka, Sachiko ^a,c   Takeda, Ayaka ^a   Sato, Utako ^a   Miki, Yuko ^a   Hishinuma, Akira ^b   Ieiri, Tamio ^b   Igarashi, Takashi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

Author keywords

Compound heterozygous; Congenital hypothyroidism; Goiter; Novel mutations; Thyroglobulin; Triiodothyronine

Indexed keywords

ARGININE; AUTOANTIBODY; CYSTEINE; GLUTAMINE; LIOTHYRONINE; THYROGLOBULIN; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY; THYROXINE;

ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; FEMUR EPIPHYSIS; GENE; GENE MUTATION; GOITER; HETEROZYGOTE; HUMAN; HYPERPARATHYROTROPINEMIA; INFANT; LIOTHYRONINE BLOOD LEVEL; MASS SCREENING; MISSENSE MUTATION; NEWBORN SCREENING; PARATHYROID DISEASE; SCREENING TEST; THYROGLOBULIN BLOOD LEVEL; THYROGLOBULIN GENE; THYROXINE BLOOD LEVEL; WEIGHT GAIN;

AMINO ACID SUBSTITUTION; CODON; CONGENITAL HYPOTHYROIDISM; FEMALE; FOLLOW-UP STUDIES; GLUTAMINE; GOITER; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; THYROGLOBULIN; THYROID FUNCTION TESTS; THYROXINE; TIME FACTORS; TREATMENT OUTCOME; TRIIODOTHYRONINE;

EID: 33646443658     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0360-2     Document Type: Article

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