FOXE1 susceptibility polymorphisms and functional characterization of rare DUOX2 variants provide new insights into congenital hypothyroidism with thyroid dysgenesis.
Thyroid dysgenesis (TD) is the main cause of congenital hypothyroidism (CH). However, a definitive genetic cause is confirmed in only 2-5% of patients, since pathogenic mutations are rare. This study was conducted to advance the understanding of TD genetic basis by investigating genetic alterations in the exomes of aff...