Identification and Functional Analysis of Novel Dual Oxidase 2 (DUOX2) Mutations in Children with Congenital or Subclinical Hypothyroidism
Author(s) -
Giuseppina De Marco,
Patrizia Agretti,
Lucia Montanelli,
Caterina Di Cosmo,
Brunella Bagattini,
Melissa De Servi,
Eleonora Ferrarini,
Antonio Dimida,
Andrea Cláudia Freitas Ferreira,
Angelo Molinaro,
Claudia Ceccarelli,
Federica Brozzi,
Aldo Pinchera,
Paolo Vitti,
Massimo Tonacchera
Publication year - 2011
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2010-2467
Subject(s) - subclinical infection , congenital hypothyroidism , identification (biology) , medicine , dual (grammatical number) , endocrinology , thyroid , biology , philosophy , linguistics , botany
Congenital hypothyroidism (CH) associated with goiter or a gland of normal size has been linked to dual oxidase 2 (DUOX2) mutations in the presence of iodide organification defect.
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