[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].

Abstract excerpt

OBJECTIVE: To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism. METHOD: Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced. RESULT: A heterozygous missense mutation C1329T in the exon 10 of the DUOX2 gene was found in one patient, predicted to result in a Tryptophan to Arginine substitution at...

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