A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

Journal of Pediatric Endocrinology and Metabolism

Volumn 27, Issue 3-4, 2014, Pages 323-327

  Cangul, Hakan ^a   Aycan, Zehra ^b   Kendall, Michaela ^c   Bas, Veysel N ^b   Saglam, Yaman ^d   Barrett, Timothy G ^e   Maher, Eamonn R ^f  

^a BAHCESEHIR UNIVERSITY   (Turkey)

^b Social Security Institution   (Turkey)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^d Medical Park Goztepe Hospital   (Turkey)

^e UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

congenital hypothyroidism; DUOX2; mutation; thyroid dyshormonogenesis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; DUOX2 GENE; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MALE; MICROSATELLITE MARKER; MOLECULAR GENETICS; NONSENSE MUTATION;

CODON, NONSENSE; CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; FEMALE; GENETIC MARKERS; HUMANS; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; NADPH OXIDASE; PEDIGREE; SEVERITY OF ILLNESS INDEX;

EID: 84896760996     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2013-0314     Document Type: Article

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