Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes

Abstract

Our study identified DUOX2 mutations in 14·9% of Chinese patients investigated with CH and goitre. Because the relationships between DUOX2 genotypes and clinical phenotypes are extremely complex, however, further studies are needed to identify more mutations in known genes which are involved in CH and goitre.