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Methods This study included 62 transient or permanent CH patients with normal-sized or enlarged eutopic thyroid. All coding exons of DUOX2 and their intronic flanking sequences were amplified by PCR, and directly sequenced. As for novel sequence variant of DUOX2, functional studies were performed by measuring H2O2 generation in vitro. Clinical presentation was retrospectively reviewed based on medical records.

Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations