Raef, Hussein <br/><br/>
Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.  [electronic resource] 

 -  The Journal of clinical endocrinology and metabolism  Mar 2010 
 - 1000-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1945-7197 
<br/><br/><label>Standard No.: </label>10.1210/jc.2009-1823  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alleles<br/>Carcinoma, Papillary, Follicular--genetics<br/>Congenital Hypothyroidism--genetics<br/>Female<br/>Genetic Testing<br/>Goiter--congenital<br/>Humans<br/>Immunohistochemistry<br/>Mutation--genetics<br/>Pedigree<br/>Thyroglobulin--genetics<br/>Thyroid Gland--metabolism<br/>Thyroid Neoplasms--genetics<br/>Thyroidectomy