- A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. Kitanaka, S., Takeda, A., Sato, U., Miki, Y., Hishinuma, A., Ieiri, T., Igarashi, T. J. Hum. Genet. (2006)