Hermanns, Pia

Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. [electronic resource] - Thyroid : official journal of the American Thyroid Association Jul 2013 - 791-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

1557-9077

10.1089/thy.2012.0141 doi


Child
Child, Preschool
Congenital Hypothyroidism--genetics
Female
Humans
Infant, Newborn
Male
PAX8 Transcription Factor
Paired Box Transcription Factors--genetics
Pedigree
Thyroid Dysgenesis--genetics