000 01673 a2200469 4500
005 20250515203704.0
264 0 _c20100331
008 201003s 0 0 eng d
022 _a1945-7197
024 7 _a10.1210/jc.2009-1823
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRaef, Hussein
245 0 0 _aBiallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.
_h[electronic resource]
260 _bThe Journal of clinical endocrinology and metabolism
_cMar 2010
300 _a1000-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAlleles
650 0 4 _aCarcinoma, Papillary, Follicular
_xgenetics
650 0 4 _aCongenital Hypothyroidism
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenetic Testing
650 0 4 _aGoiter
_xcongenital
650 0 4 _aHumans
650 0 4 _aImmunohistochemistry
650 0 4 _aMutation
_xgenetics
650 0 4 _aPedigree
650 0 4 _aThyroglobulin
_xgenetics
650 0 4 _aThyroid Gland
_xmetabolism
650 0 4 _aThyroid Neoplasms
_xgenetics
650 0 4 _aThyroidectomy
700 1 _aAl-Rijjal, Roua
700 1 _aAl-Shehri, Sameerah
700 1 _aZou, Minjing
700 1 _aAl-Mana, Hadeel
700 1 _aBaitei, Essa Y
700 1 _aParhar, Ranjit S
700 1 _aAl-Mohanna, Futwan A
700 1 _aShi, Yufei
773 0 _tThe Journal of clinical endocrinology and metabolism
_gvol. 95
_gno. 3
_gp. 1000-6
856 4 0 _uhttps://doi.org/10.1210/jc.2009-1823
_zAvailable from publisher's website
999 _c19466412
_d19466412