The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 3, 2014, Pages

  Muzza, M ^a   Rabbiosi, S ^b   Vigone, M C ^b   Zamproni, I ^b   Cirello, V ^a   Maffini, M A ^a   Maruca, K ^b   Schoenmakers, N ^e   Beccaria, L ^d   Gallo, F ^f   Park, S M ^g   Beck Peccoz, P ^a   Persani, L ^c   Weber, G ^b   Fugazzola, L ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d A MANZONI HOSPITAL   (Italy)

^e MEDICAL RESEARCH COUNCIL   (United Kingdom)

^f PERRINO HOSPITAL   (Italy)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DIAGNOSTIC TEST; DUOX2 GENE; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HELA CELLS; HUMANS; INFANT; MUTATION, MISSENSE; NADPH OXIDASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84895793589     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3618     Document Type: Article

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