Combining whole-exome sequencing with clinical data for genotype–phenotype correlation in patients with congenital hypothyroidism that include the DUOX2 gene variation
Abstract:Background: Clinical expression of DUOX2 gene variants is differential in patients with congenital hypothyroidism (CH). We investigated whether the molecular etiology of DUOX2 gene variants in CH patients can predict disease outcome, drug dosage, and follow-up period. Potential pathogenic variants were detected in 98 CH patients using whole-exome sequencing. Differences in diagnostic indicators and sustained Levothyroxine (L-T4)therapeutic dose between biallelic and monoallelic groups were compared.
Results: T… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.