Genetic Evaluation of Congenital Hypothyroidism with Gland <i>in situ</i> Using Targeted Exome Sequencing.

Abstract

Targeted exome sequencing identified the genetic causes of congenital hypothyroidism with thyroid gland <i>in situ</i> in 80% of the patients studied, with <i>DUOX2</i> and <i>TSHR</i> mutations being the most common. As many of the identified variants were novel, additional studies on the genetic causes of congenital hypothyroidism are warranted.