000 01495 a2200397 4500
005 20250516131044.0
264 0 _c20140127
008 201401s 0 0 eng d
022 _a1557-9077
024 7 _a10.1089/thy.2012.0141
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHermanns, Pia
245 0 0 _aTwo cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
_h[electronic resource]
260 _bThyroid : official journal of the American Thyroid Association
_cJul 2013
300 _a791-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCongenital Hypothyroidism
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant, Newborn
650 0 4 _aMale
650 0 4 _aPAX8 Transcription Factor
650 0 4 _aPaired Box Transcription Factors
_xgenetics
650 0 4 _aPedigree
650 0 4 _aThyroid Dysgenesis
_xgenetics
700 1 _aGrasberger, Helmut
700 1 _aCohen, Ronald
700 1 _aFreiberg, Clemens
700 1 _aDörr, Helmuth-Günther
700 1 _aRefetoff, Samuel
700 1 _aPohlenz, Joachim
773 0 _tThyroid : official journal of the American Thyroid Association
_gvol. 23
_gno. 7
_gp. 791-6
856 4 0 _uhttps://doi.org/10.1089/thy.2012.0141
_zAvailable from publisher's website
999 _c22411216
_d22411216