Article
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.
The Journal of clinical endocrinology and metabolism - 1 Mar 2014
Muzza M, Rabbiosi S, Vigone M C, Zamproni I, Cirello V, Maffini M A, Maruca K, Schoenmakers N, Beccaria L, Gallo F, Park S-M, Beck-Peccoz P, Persani L, Weber G, Fugazzola L
Abstract excerpt
CONTEXT: Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect. OBJECTIVE: This study aimed to verify the prevalence of DUOX2 mutations and the associated clinical features in children selected by criteria supporting a partial iodide organification defect (PIOD). PATIENTS AND METHODS: Thirty children with PIOD-like criteria were...
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