Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 26, Issue 1-2, 2013, Pages 45-52

  Yoshizawa Ogasawara, Atsuko ^a,b   Ogikubo, Sayaka ^a   Satoh, Mari ^c   Narumi, Satoshi ^d   Hasegawa, Tomonobu ^d  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b Ibaraki Children's Hospital   (Japan)

^c TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Congenital hypothyroidism; Dual oxidase 2 (DUOX2); Dyshormonogenesis; G488R mutation; Neonatal screening

Indexed keywords

ARGININE; DUAL OXIDASE 2; GLYCINE; OXIDOREDUCTASE; THYROID HORMONE; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; CONGENITAL HYPOTHYROIDISM; EXON; FEMALE; FREE THYROXINE INDEX; GENE DELETION; GENE INSERTION; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; JAPANESE; MISSENSE MUTATION; NEWBORN; NEWBORN PERIOD; NEWBORN SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID DISEASE; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CONGENITAL HYPOTHYROIDISM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NADPH OXIDASE;

EID: 84878283089     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2012-0082     Document Type: Article

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