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We previously reported that biallelic mutations in dual oxidase 2 (DUOX2) cause transient hypothyroidism. Since then, many cases with DUOX2 mutations have been reported. However, the clinical features and prognosis of individuals with DUOX2 defects have not been clarified.

Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty