Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical genetics"
DOI: 10.1111/cge.14065
Abstract: DUOX2 is the most frequently mutated gene in patients with congenital hypothyroidism (CH) in China. However, no reliable genotype-phenotype relationship has been found in patients with DUOX2 mutations. In this study, DUOX2 mutations were screened… read more here.
Keywords: hypothyroidism; enzymatic activity; duox2 residual; activity ... See more keywords