TY  - GEN
AU  - Hermanns,Pia
AU  - Grasberger,Helmut
AU  - Cohen,Ronald
AU  - Freiberg,Clemens
AU  - Dörr,Helmuth-Günther
AU  - Refetoff,Samuel
AU  - Pohlenz,Joachim
TI  - Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms
SN  - 1557-9077
PY  - 2014///0127
KW  - Child
KW  - Child, Preschool
KW  - Congenital Hypothyroidism
KW  - genetics
KW  - Female
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - PAX8 Transcription Factor
KW  - Paired Box Transcription Factors
KW  - Pedigree
KW  - Thyroid Dysgenesis
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1089/thy.2012.0141
ER  -