Muzza, M <br/><br/>
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.  [electronic resource] 

 -  The Journal of clinical endocrinology and metabolism  Mar 2014 
 - E544-53 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1945-7197 
<br/><br/><label>Standard No.: </label>10.1210/jc.2013-3618  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Congenital Hypothyroidism--diagnosis<br/>DNA Mutational Analysis<br/>Dual Oxidases<br/>Gene Frequency<br/>Genetic Association Studies<br/>HeLa Cells<br/>Humans<br/>Infant<br/>Mutation, Missense<br/>NADPH Oxidases--genetics<br/>Polymorphism, Single Nucleotide