The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.
Muzza M, Rabbiosi S, Vigone MC, Zamproni I, Cirello V, Maffini MA, Maruca K, Schoenmakers N, Beccaria L, Gallo F, Park SM, Beck-Peccoz P, Persani L, Weber G, Fugazzola L.
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J Clin Endocrinol Metab. 2014 Mar;99(3):E544-53. doi: 10.1210/jc.2013-3618. Epub 2013 Jan 1.
J Clin Endocrinol Metab. 2014.
PMID: 24423310