Pia Hermanns Samuel Refetoff Chutintorn Sriphrapradang Joachim Pohlenz Jessica Okamato Leeyat Slyper Arnold H Slyper
10.1515/jpem-2012-0287
J Pediatr Endocrinol Metab
2013;26(1-2):119-23.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23457313/
Goiter, Nodular / genetics Thyroglobulin / genetics
Goiter, Nodular / genetics Thyroglobulin / genetics Case Reports Research Support, N.I.H., Extramural Base Sequence Child Consanguinity DNA Mutational Analysis Female Goiter, Nodular / diagnosis Goiter, Nodular / pathology Humans Molecular Sequence Data Mutation, Missense / physiology Organ Size / genetics Pedigree Phenotype Thyroglobulin Euthyroid Goiter
PMC4061902
23457313
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies
2013