TY  - GEN
AU  - Raef,Hussein
AU  - Al-Rijjal,Roua
AU  - Al-Shehri,Sameerah
AU  - Zou,Minjing
AU  - Al-Mana,Hadeel
AU  - Baitei,Essa Y
AU  - Parhar,Ranjit S
AU  - Al-Mohanna,Futwan A
AU  - Shi,Yufei
TI  - Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma
SN  - 1945-7197
PY  - 2010///0331
KW  - Adult
KW  - Alleles
KW  - Carcinoma, Papillary, Follicular
KW  - genetics
KW  - Congenital Hypothyroidism
KW  - Female
KW  - Genetic Testing
KW  - Goiter
KW  - congenital
KW  - Humans
KW  - Immunohistochemistry
KW  - Mutation
KW  - Pedigree
KW  - Thyroglobulin
KW  - Thyroid Gland
KW  - metabolism
KW  - Thyroid Neoplasms
KW  - Thyroidectomy
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1210/jc.2009-1823
ER  -