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

  1. Rivolta, C.M.
  2. Moya, C.M.
  3. Gutnisky, V.J.
  4. Varela, V.
  5. Miralles-García, J.M.
  6. González-Sarmiento, R.
  7. Targovnik, H.M.
Journal:
Journal of Clinical Endocrinology and Metabolism

ISSN: 0021-972X

Year of publication: 2005

Volume: 90

Issue: 6

Pages: 3766-3770

Type: Article

DOI: 10.1210/JC.2005-0278 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus