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A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-García JM, González-Sarmiento R, Targovnik HM. Rivolta CM, et al. Among authors: gutnisky vj. J Clin Endocrinol Metab. 2005 Jun;90(6):3766-70. doi: 10.1210/jc.2005-0278. Epub 2005 Mar 15. J Clin Endocrinol Metab. 2005. PMID: 15769978
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM. Caputo M, et al. Among authors: gutnisky vj. J Endocrinol. 2007 Oct;195(1):167-77. doi: 10.1677/JOE-07-0033. J Endocrinol. 2007. PMID: 17911408