Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
Hermanns P, Grasberger H, Cohen R, Freiberg C, Dörr HG, Refetoff S, Pohlenz J. Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. Thyroid. 2013 Jul; 23(7):791-6.