Hypothyroidism caused by the combination of two heterozygous mutations: One in the TSH receptor gene the other in the DUOX2 gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 28, Issue 5-6, 2015, Pages 657-661

  Satoh, Mari ^a   Aso, Keiko ^a   Ogikubo, Sayaka ^b   Yoshizawa Ogasawara, Atsuko ^c   Saji, Tsutomu ^a  

^a TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

^b Okinaka Memorial Institute for Medical Research   (Japan)

^c Ibaraki Children's Hospital   (Japan)

Author keywords

dual oxidase 2 (DUOX2); hypotyroidism; oligogenicity; TSH receptor

Indexed keywords

DUAL OXIDASE 1; DUAL OXIDASE 2; GENOMIC DNA; LEVOTHYROXINE; LIOTHYRONINE; OXIDOREDUCTASE; THYROGLOBULIN; THYROTROPIN; THYROTROPIN RECEPTOR; UNCLASSIFIED DRUG; DUOX2 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

A1323T GENE; ARTICLE; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; ECHOGRAPHY; FREE THYROXINE INDEX; GENE; GENE FREQUENCY; HETEROZYGOTE; HORMONE SUBSTITUTION; HUMAN; HYPOTHYROIDISM; L1343F GENE; LIOTHYRONINE BLOOD LEVEL; MALE; MISSENSE MUTATION; NEWBORN SCREENING; POINT MUTATION; POLYMERASE CHAIN REACTION; R450H GENE; SCHOOL CHILD; THYROGLOBULIN BLOOD LEVEL; THYROID FUNCTION; THYROTROPIN BLOOD LEVEL; UMBILICAL CORD BLOOD; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; MOLECULAR GENETICS; MUTATION; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; CHILD; HETEROZYGOTE; HUMANS; HYPOTHYROIDISM; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NADPH OXIDASE; RECEPTORS, THYROTROPIN; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84928951233     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2014-0078     Document Type: Article

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