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Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.
J Clin Endocrinol Metab. 2003 Aug;88(8):3546-53. doi: 10.1210/jc.2002-021744.
J Clin Endocrinol Metab. 2003.
PMID: 12915634
Clinical Trial.
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